"Bioss"

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This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008].

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Involved in intracellular protein transport probably out of a prevacuolar endosomal compartment. May be involved in the release of components of the bilayered coat from the endosomal membrane. The association with ESCRT-III complex mediates the ATP-dependent disassembly of the ESCRT-III complex. In case of infection, the HIV-1 virus takes advantage of it for budding and exocytic cargos of viral proteins.

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Junctophilins are components of the junctional complexes between plasma membranes and endoplasmic or sarcoplasmic reticulums present in all excitable cells. Junctophilins contain a cytoplasmic domain which binds to the plasma membrane, as well as an ER/SR membrane spanning hydrophobic C-terminal segment. The three subtypes in this family are Junctophilin-1, -2 and -3. Junctophilin-1 is predominantly expressed in skeletal muscle, but is also expressed at low levels in heart. Junctophilin-2 is expressed in heart and skeletal muscle. Mutant mice lacking the Jph2 gene exhibit embryonic lethality and possess cardiac myocytes that express abnormal calcium transients. Junctophilin-3 is expressed in brain. The JPH3 alternatively spliced exon 2A has been suggested as a site for CTG repeat expansion leading to a Huntington disease-like autosomal dominant disorder.

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Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis.

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Kelch domain-containing protein 8A (KLHDC8A) is a 350 amino acid protein. KLHDC8A contains seven kelch repeats, each of which is an approximately 50 amino acid long conserved region that forms a tertiary structure beta-propeller. The gene that encodes KLHDC8A is located on chromosome 1, which 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. 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. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.

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Influenza A virus is a major public health threat. Novel influenza virus strains caused by genetic drift and viral recombination emerge periodically to which humans have little or no immunity, resulting in devastating pandemics. Influenza A can exist in a variety of animals; however it is in birds that all subtypes can be found. These subtypes are classified based on the combination of the virus coat glycoproteins hemagglutinin (HA) and neuraminidase (NA) subtypes. During 1997, an H5N1 avian influenza virus was determined to be the cause of death in 6 of 18 infected patients in Hong Kong. There was some evidence of human to human spread of this virus, but it is thought that the transmission efficiency was fairly low. HA interacts with cell surface proteins containing oligosaccharides with terminal sialyl residues. Virus isolated from a human infected with the H5N1 strain in 1997 could bind to oligosaccharides from human as well as avian sources, indicating its species jumping ability.Influenza A Virus [A/California/04/2009(H1N1)]

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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. GPR signaling is an evolutionarily ancient mechanism used by all eukaryotes to sense environmental stimuli and mediate cell-cell communication. 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. GPR34 is a 381 amino acid protein belonging to the G-protein coupled receptor 1 family. Widely expressed, GPR34 is localized to the cell membrane.

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NFKB1 or NFKB2 is bound to REL, RELA, or RELB to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, or NFKBIB), which inactivate NF-kappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, or IKBKB) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine). For some genes, activation requires NFKB interaction with other transcription factors, such as STAT, AP1 (JUN), and NFAT.

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This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011].

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May be involved in regulation of genes related to neurogenesis in the nucleolus.

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The phosphorylation and dephosphorylation of proteins on serine and threonine residues is an essential means of regulating a broad range of cellular functions in eukaryotes, including cell division, homeostasis and apoptosis. A group of proteins that are intimately involved in this process are the serine/threonine (Ser/Thr) protein kinases. ANKK1 (ankyrin repeat and kinase domain containing 1), also known as PKK2 or SGK288, is a 765 amino acid protein that belongs to the Ser/Thr protein kinase family and contains 12 ANK repeats and one protein kinase domain. Highly expressed in brain tissue and present in lower amounts in placenta and spinal cord, ANKK1 functions to catalyze the ATP-dependent phosphorylation of target proteins and is thought to play a role in alcohol and nicotine dependence. The gene encoding ANKK1 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome.

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CLASP2 is a microtubule plus end tracking protein that promotes the stabilization of dynamic microtubules and is required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. CLASP2 may act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3 kinase signaling. CLASP2 also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle.

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Anti-A2M Rabbit Polyclonal Antibody

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Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.

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Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.

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Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The C8orf44 gene product has been provisionally designated C8orf44 pending further characterisation.