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Promotes the degradation of p53/TP53 protein and inhibits its transactivity.

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Hexosaminidase A (HEXA), also designated beta-Hexosaminidase A, is a trimer composed of one å chain, one ∫-A chain and one ∫-B chain and is found in the lysosomes of cells. HEXA, along with the cofactor CM2 activator protein, catalyzes the degradation of GM2 ganglioside and other molecules containing terminal N-acetyl hexosamines in the brain and other tissues. A mutation in the å subunit of hexosaminidase is the cause of Tay-Sachs disease (TSD), also known as GM2-gangliosidosis type I. TSD is a fatal autosomal recessive lysosomal storage disease of the central nervous system (CNS) caused by insufficient activity of the HEXA enzyme that results in a failure to process GM2 gangliosides. The accumulation of GM2 ganglioside in the absence of HEXA activity causes progressive destruction of the CNS.

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Transport of G protein-coupled receptors (GPCRs) to the cell surface membrane is critical for receptor-ligand recognition. Mammalian GPCR odorant receptors (ORs), when heterologously expressed in cells, are poorly expressed on the cell surface. REEP1 (receptor expression-enhancing protein 1), is a 201 amino acid multi-pass mitochondrion membrane protein that belongs to the DP1 family. REEP1 interacts with odorant receptor proteins and may enhance the cell surface expression of odorant receptors. Mutations in the REEP1 gene are the third most common cause of hereditary spastic paraplegia (HSP) after spastin and atlastin gene mutations. Mutations in the REEP1 gene also cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. The REEP1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, A.thaliana and rice, and maps to human chromosome 2p11.2.

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Nicotinamide adenine dinucleotide (NMNAT) is an essential cofactor involved in fundamental processes in cell metabolism. NMNAT plays a key role in NAD(+) biosynthesis, catalysing the condensation of nicotinamide mononucleotide and ATP, and yielding NAD(+) and pyrophosphate. NMNAT appears to be a substrate of nuclear kinases and contains at least three potential phosphorylation sites. The interaction of NMNAT with nuclear proteins is likely to be modulated by phosphorylation. NMNAT is widely expressed with highest levels in skeletal muscle, heart, liver and kidney.

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Anti-SPG3A Rabbit Polyclonal Antibody

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Myotubularin and the myotubularin-related proteins (MTMR1-9) belong to a highly conserved family of eukaryotic phosphatases. They are protein tyrosine phosphatases that utilize inositol phospholipids, rather than phosphoproteins, as substrates. MTMR family members hydrolyze both Phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2. MTMR2 interacts with MTMR5, an inactive family member that increases the enzymatic activity of MTMR2 and dictates its subcellular localization. Mutations in MTMR2 cause autosomal recessive Charcot-Marie-Tooth type 4B1 (CMT4B1), which is characterized by reduced nerve conduction velocities, focally folded myelin sheaths and demyelination. MTMR3 and MTMR4 can either interact with each other or self associate. MTMR6 regulates the activity of the calcium-activated potassium channel 3.1. MTMR9 regulates the activity of MTMR7 and MTMR8.

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The Elav-like genes encode for a family of RNA-binding proteins. Elav, a Drosophila protein and the first described member, is expressed immediately after neuroblastic differentiation into neurons and is necessary for neuronal differentiation and maintenance. Several mammalian Elav-like proteins, designated HuC, HuD and Hel-N1, are also expressed in postmitotic neurons. An additional mammalian homolog, HuR, which is also designated HuA, is ubiquitously expressed and is also overexpressed in a wide variety of tumors. Characteristically, these homologs all contain three RNA recognition motifs (RRM) and they specifically bind to AU-rich elements (ARE) in the 3'-untranslated region of mRNAs transcripts. ARE sites target mRNA for rapid degradation and thereby regulate the expression levels of genes involved in cell growth and differentiation. When Elav-like proteins associate with these ARE sites this degradation is inhibited, leading to an increased stability of the corresponding transcript. Elav proteins function within the nucleus, and they are shuttled between the nucleus and cytoplasm by a nuclear export signal, which is a regulatory feature of the Elav-like proteins as it limits their accessibility to ARE sites.

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Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The FAM62A gene product has been provisionally designated FAM62A pending further characterization.

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Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.

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Anti-RIMBP2 Rabbit Polyclonal Antibody

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Anti-SNAP29 Rabbit Polyclonal Antibody

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Anti-RIMS1/ABCA4 Rabbit Polyclonal Antibody

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Anti-RIC8A Rabbit Polyclonal Antibody

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HHV8 has been found to be associated with three different diseases observed in AIDS patients; kaposi's sarcoma, primary effusion lymphoma (which is a rare type of non-Hodgkin lymphoma affecting the body cavities) and multicentric Castleman's disease. To date there is much evidence to support a direct role for HHV8 in kaposi's sarcoma.

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SNF5 is involved in transcriptional activation. The SWI/SNF complex is required for the induced expression of a large number of genes. This complex alters chromatin structure to facilitate binding of gene-specific dedicated transcription factors. SNF5 also funtions as a tumor suppressor gene and is frequently mutated in malignant rhabdoid tumors. It is also involved in adipocyte differentiation.

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SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5

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Has both helicasee and E3 ubiquitin ligase activities. Possesses intrinsic ATP-dependent nucleosome-remodeling activity; This activity may be required for transcriptional activation or repression of specific target promoters (By similarity). These may include the SERPINE1 and HIV-1 promoters and the SV40 enhancer, to which this protein can bind directly. Plays a role in error-free postreplication repair (PRR) of damaged DNA and maintains genomic stability through acting as a ubiquitin ligase for 'Lys-63'-linked polyubiquitination of chromatin-bound PCNA.

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FBXO28 is a member of the F-box protein family. Such proteins are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases.

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May play a negative role in growth factor receptor signaling pathways.

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The exact function of ATXN7L1 remains unknown.

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Anti-TRIP13 Rabbit Polyclonal Antibody

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Anti-MRAP2 Rabbit Polyclonal Antibody

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Anti-DSCAM Rabbit Polyclonal Antibody

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Anti-TRPV3 Rabbit Polyclonal Antibody

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Anti-NPS Rabbit Polyclonal Antibody

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Negative regulator of beta amyloid peptide production. May inhibit the processing of APP by blocking its access to alpha-and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation.

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The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. Leucine-rich glioma-inactivated protein 3 (LGI3), also known as LGI1-like protein 4 (LGIL4) or leucine-rich repeat LGI family member 3, is a 548 amino acid secretory protein. LGI3 contains five LRR repeats and seven EAR repeats. Widely expressed, with highest levels in brain and lung, LGI3 has been shown to colocalize with endocytosis-associated proteins, lipid raft markers, and Syntaxin. The gene encoding LGI3 maps to chromosome 8p21.3.

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Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. Involved in TNF-induced necroptosis downstream of MLKL by mediating calcium influx. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin A1 (ANXA1).

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Anti-RNASE3 Rabbit Polyclonal Antibody

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Anti-CDC25C Rabbit Polyclonal Antibody