33353 Results for: "Provette+per+immunologia&pageNo=67"

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HDX.

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Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf163 gene product has been provisionally designated C1orf163 pending further characterization.

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HCCS is a 79 amino acid protein that may act as a tumor suppressor, promoting the apoptosis of cancer cells. Expressed in leukocytes, lung, spleen, liver, heart, kidney, muscle and uterine cervix, HCCS-1 is down-regulated in cervical cancers. The gene encoding HCCS-1 maps to human chromosome 15q25.1. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and comprises about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.

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Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Mediates cellular responses to ERBB4. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the GAS element and activates PRL-induced transcription. Regulates the expression of milk proteins during lactation.

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Involved in the conversion of lanosterol to cholesterol.Expressed in adult heart, brain, pancreas, lung, liver, skeletal muscle, kidney, ovary, prostate, and testis, but not detected in placenta, spleen, thymus, small intestine, colon (mucosal lining), or peripheral blood leukocytes.

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Rab 3, a neural/neuroendocrine-specific member of the Rab family, is involved in Ca2+-regulated exocytosis and functions in an inhibitory capacity, controlling the recruitment and pooling of secretory vesicles at the plasma membrane. The Rim (Rab 3 interacting molecule) family of proteins (Rim1, Rim2, Rim3 and Rim4) are multidomain adaptors that regulate Rab 3 activity and sub-sequent neurotransmitter release. Rim3, also known as RIMS3 (regulating synaptic membrane exocytosis 3) or NIM3, is a 308 amino acid member of the Rim family. Localized to the synapse and to cell junctions, Rim3 contains one C2 domain and is thought to play an important role in the regulation of synaptic membrane exocytosis. Rim3, a protein that may be phosphorylated upon DNA damage, is expressed throughout the body with highest levels present in brain tissue.

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Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]

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Rim4 (Rab 3 interacting molecule 4), also known as Rim4 or regulating synaptic membrane exocytosis protein 4, is a 269 amino acid protein that localizes to the cell junction and regulates synaptic membrane exocytosis.Rab 3, a neural/neuroendocrine-specific member of the Rab family, is involved in Ca2+-regulated exocytosis. Rab 3 functions in an inhibitory capacity by controlling the recruitment of secretory vesicles into a releasable pool at the plasma membrane. Rim (Rab 3 interacting molecule), a putative effector protein for Rab 3 proteins, is thought to regulate neutrotransmitter release through its interaction with Rab 3 and other synaptic proteins.

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Plexins are a family of large, transmembrane receptors for multiple classes of semaphorins in vertebrates. They are widely expressed, and regions of their extracellular domain are homologus to both scatter factor receptors and semaphorin domains. Plexins may act as semaphorin receptors alone or in combination with neuropilins. Plexins are divided into four subfamilies designated plexin-A, -B, -C, and -D. Plexin-B1 and -B2 are both receptors for Sema4D, which stimulates axonal outgrowth of embryonic dorsal root ganglion neurons. . Plexin-B3 binds to Sema5A, which controls axon guidance and can initiate the intracellular signaling of the hepatocyte growth factor/scatter factor receptor Met.

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AASDH is an Acyl CoA synthetase. Acyl CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA .

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Insulin receptor substrates (IRS) are responsible for several insulin related activities, such as glucose homeostasis, cell growth, cell transformation, apoptosis and insulin signal transduction. Serine/threonine phosphorylation of IRS1 has been demonstrated to be a negative regulator of insulin signaling and is responsible for its degradation, although IRS1 degradation pathways are not well understood. IRS1 has also been shown to be constitutively activated in cancers such as breast cancer, Wilm's tumors, and adrenal cortical carcinomas, thus making IRS1 phosphorylation and subsequent degradation an attractive therapeutic target. To date there have been four subtypes identified: IRS1, 2, 3 and 4, with IRS1 being widely expressed.

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Polycystin-1L3 is a 1,732 amino acid multi-pass membrane protein that contains one PLAT domain, one GPS domain and one C-type lectin domain. Expressed at high levels in placenta and present at lower levels in lung and heart, Polycystin-1L3 is thought to function as an ion-channel regulator that may interact with Polycystin-L and play a role in heteromeric taste channels. The gene encoding Polycystin-1L3 maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.

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This gene encodes a protein containing a coiled-coil domain. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. Localization of the orthologous rat protein suggests that it may play a role in neuronal injury response. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2011].

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The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The C2orf27 gene product has been provisionally designated C2orf27 pending further characterization.

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Olfactory sensory neurons contain olfactory receptors, which are G protein-coupled receptor proteins that localize to the cilia and display affinity for and bind to a variety of odor molecules. Olfactory neurons send their axons from the olfactory epithelium to the olfactory bulb, which is covered by the CNS basal lamina. FEZF1 (Fez family zinc finger protein 1), also known as Forebrain Embryonic Zinc Finger and Zinc finger protein 312B, is a 475 amino acid nuclear protein that is expressed in the olfactory epithelium and hypothalamus of mice. In FEZF1-deficient mice, axons of olfactory neurons do not reach the olfactory bulb, suggesting that FEXF1 is required for the penetration of olfactory axons though the basal lamina before innervation of the olfactory bulb. When FEZF1 translocates to the nucleus, it induces KRAS overexpression, resulting in activation of ERK-signaling. Overexpression of FEZF1 leads to accelerated proliferation in cultured cells and increased tumor mass in mice. There are three isoforms of FEZF1 that are produced as a result of alternative splicing events.

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Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals.

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GGTLC2

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Transforming Growth Factor (TGF) betas mediate many cell to cell interactions that occur during embryonic development. Three TGF betas have been identified in mammals. TGF beta 1, TGF beta 2 and TGF beta 3 are each synthesized as precursor proteins that are very similar in that each is cleaved to yield a 112 amino acid polypeptide that remains associated with the latent portion of the molecule. The TGF beta polypeptides are multifunctional; capable of influencing cell proliferation, differentiation, and other functions in a wide range of cell types. Transformed, as well as nonneoplastic tissues, release transforming growth factors; and essentially all mammalian cells possess a specific TGF receptor. The multi modal nature of TGF beta is seen in its ability to stimulate or inhibit cellular proliferation. In general, cells of mesenchymal origin appear to be stimulated by TGF beta whereas cells of epithelial or neuroectodermal origin are inhibited by the peptide. TGF beta 1, TGF beta 2, and TGF beta 1.2 appear to be equivalent in biological activity, although there does appear to be differences in binding to certain types of receptors. TGF beta 2 is produced by many cell types and has been found in the highest concentration in porcine platelets and mammalian bone. Latent TGF beta 2 is the prominent isoform found in body fluids such as amniotic fluid, breast milk, and the aqueous and vitreous humor of the eye.

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Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini. Also component of the ribonucleoprotein vaults particle, a multi-subunit structure involved in nucleo-cytoplasmic transport. Responsible for the localizing and stabilizing vault RNA (vRNA) association in the vault ribonucleoprotein particle. Binds to TERC (By similarity).

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Relaxin Receptor 3 is a G protein-coupled receptor that binds Relaxin 3 and influences differentiation and maintenance of the nervous system. Relaxin Receptor 3 shares sequence similarity with somatostatin receptors and angiotensin receptors. It mediates central processing of sensory signals in the rat and is thought to be a modulator of stress responses. Relaxin Receptor 3 is present in the brain, with highest expression in substantia nigra and pituitary, followed by hippocampus, spinal cord, amygdala, caudate nucleus and corpus callosum, and low level expression in cerebellum. In peripheral tissues there are high levels in adrenal glands and low levels in pancreas, salivery gland, placenta, mammary gland and testis.

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Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter.

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SKALP

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This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq].

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CXorf36

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Purines are critical for energy metabolism, cell signaling and cell reproduction and also function as precursors for coenzymes, energy transfer molecules, regulatory factors and proteins involved in RNA and DNA synthesis. GART (GAR transformylase), also referred to as AIRS, GARS, PAIS, PGFT, PRGS or GARTF, is 1,010 amino acids in length and is a key folate-dependent trifunctional enzyme with phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase and AICAR (phosphoribosylaminoimidazole synthetase) activity required for de novo purine biosynthesis. Cancer cells require considerable amounts of purines to sustain their accelerated growth and GART is, therefore, a target for cancer chemotherapy. GART is highly conserved in vertebrates. Two isoforms of GART are expressed due to alternative splicing events.

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Islet-2 (insulin gene enhancer protein ISL-2) is a 359 amino acid protein encoded by the human gene ISL2. Islet-2 is a nuclear protein that contains two N-terminal LIM domains, followed by a homeodomain and a serine/ glutamine/threonine-rich C-terminus. Islet-2 is a transcriptional factor that defines subclasses of motor neurons that segregate into columns in the spinal cord and select distinct axon pathways. Islet-1 and Islet-2 are initially ex-pressed by all postmitotic spinal motor neurons prior to diversification of somatic and visceral neuronal fates. Somatic, but not visceral, motor neurons maintain Islet-2 expression at later embryonic stages. An early phase of Islet-2 expression by prospective visceral motor neurons of the sympathetic preganglionic motor column is critical for the emergence of complete visceral motor neuron character. Mutations that reduce or eliminate both Islet-1 and Islet-2 activity will result in pronounced defects in visceral motor neuron generation and eroded somatic motor neuron character.

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Prevents the interaction between CTNNB1 and TCF family members, and acts as negative regulator of the Wnt signaling pathway.

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Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as potent mitogen in vitro (By similarity).

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G protein-coupled receptors (GPRs), also known as seven transmembrane receptors, heptahelical receptors or 7TM receptors, comprise a superfamily of proteins that play a role in many different stimulus-response pathways. G protein coupled receptors translate extracellular signals into intracellular signals (G protein activation) and they respond to a variety of signaling molecules, such as hormones and neurotransmitters. GPR146 (G protein-coupled receptor 146), also known as PGR8, is a 333 amino acid multi-pass transmembrane protein that belongs to the G-protein coupled receptor 1 family. Characterized as an orphan receptor for which its endogenous ligand has yet to be identified, GPR146 is thought to play a role in signaling events throughout the cell.

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The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP sialic acid to galactose-containing substrates. The encoded protein, which is normally found in the Golgi apparatus but which can be proteolytically processed to a soluble form, is involved in the generation of the cell surface carbohydrate determinants and differentiation antigens HB6, CDw75, and CD76. This protein is a member of glycosyltransferase family 29. Three transcript variants encoding two different isoforms have been found for this gene.