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Anti-HRH1 Rabbit Polyclonal Antibody

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May mediate microtubule plus end-directed vesicle transport.

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Anti-MPZL2 Rabbit Polyclonal Antibody

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Anti-RARB Rabbit Polyclonal Antibody

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The LIM-only (LMO) proteins, LMO1 and LMO2, are nuclear factors that are characterized by a conserved LIM domain (1). The LIM domain consists of a cysteine-rich zinc-binding motif that is present in a variety of transcription factors, including the LIM homeobox (LHX) proteins expressed in the central nervous system and involved in cell differentiation (2). LMO1 and LMO2 are expressed in the adult CNS in a cell type-specific manner, where they are differentially regulated by neuronal activity and are involved in regulating the cellular differentiated phenotype of neurons (3). LMO2 lacks a specific DNA-binding homeobox domain but rather assembles into transcriptional regulatory complexes to mediate gene expression by interacting with the widely expressed nuclear LIM interactor (NLI) (4). NLI, known also as CLIM-1, and the related protein CLIM-2 facilitate the formation of heteromeric LIM complexes and also enhance the nuclear retention of LIM proteins (5). LMO2 and the related protein LMO4 are expressed in thymic precursor cells (6). LMO4 is also expressed in mature T cells, cranial neural crest cells, somite, dorsal limb bud mesenchyme, motor neurons, and Schwann cell progenitors (7).

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The placental-derived growth factor (PIGF) is a dimeric glycoprotein showing a high degree of sequence similarity to the vascular endothelial growth factor. Alternative splicing of the PIGF primary transcript gives rise to two forms, named PIGF-1 and PIGF-2, which differ only in the insertion of a highly basic 21-amino acid stretch at the carboxyl end. The presence of the PIGF mRNA in thyroid, placenta, lung, and goiter has indicated the tissues where this factor functions. However, the role of PIGF in vascular development has not yet been clearly established.

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This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

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Collagen proteins (products of the COL gene family) are fibrous, extracellular matrix proteins with high tensile strength and are the major components of connective tissue such as tendons and cartilage. All collagens contain a triple helix domain and frequently show lateral self-association in order to form complex connective tissues. The Collagen Type XXV precursor produces the proteolytic fragment CLAC (collagenous Alzheimer amyloid plaque component), which deposits in senile plaques associated with amyloid beta peptides (Abeta) in the brains of patients with Alzheimer's disease. CLAC binds to the fibrillized form of Abeta, which disturbs the structure and function of plasma membranes.

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Chromosome 22 contains over 500 genes and about 49 million bases. Being the second smallest human chromosome, 22 contains a surprising variety of interesting genes. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia. The C22orf15 gene product has been provisionally designated C22orf15 pending further characterization.

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DDX23 encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined.

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FSIP1 is a 581 amino acid protein that is expressed in airway epithelium. A member of the FSIP1 family, FSIP1 is encoded by a gene that maps to human chromosome 15q14 and mouse chromosome 2 E5. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is 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. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. 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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This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.

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Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis.

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MS4A (membrane-spanning 4-domain family, subfamily A) is a large family of proteins that includes at least 26 members in mouse and humans. Flanked by amino- and carboxyl- cytoplasmic regions, MS4A family members contain four highly conserved transmembrane domains. CD20, the most well-known MS4A family member, is a B-cell-specific molecule that functions as a calcium-permeable cation channel and is known to accelerate the G0 to G1 progression induced by IGF-1. MS4A15 (membrane-spanning 4-domains, subfamily A, member 15) is a 240 amino acid multi-pass membrane protein that exists as two alternatively spliced isoforms. The gene encoding MS4A15 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.

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This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. [provided by RefSeq, Jul 2008].

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Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex.