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This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. [provided

GATA4 is a 46 kDa member of the GATA family of zinc finger containing transcription factors that is involved in the development of cardiac hypertrophy and remodeling, and plays a critical role in regulating basal and agonist or stress induced gene expression in cardiac and smooth muscle cell types. GATA4 contains a conserved MAPK phosphorylation site at serine 105 within the transcriptional activation domain. Serine 105 of GATA4 is phosphorylated in response to agonist stimulation through M

Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B.$nInvolvement in disease:Defects in AXIN2 are involved in colorectal cancer (CRC). They appear to be specifically associated with defective mismatch repair.$nDefects in AXIN2 are the cause of oligodontia-colorectal cancer syndrome (ODCRCS). Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable type

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Tyrosinase is the key enzyme for melanin,synthesis in mammalian melanocytes and has been considered to be a unique marker for the study of melanocyte differentiation. A cDNA library was constructed from poly(A)+ mRNA from mouse melanocytes and screened using anti- tyrosinase antiserum and oligonucleotide probes corresponding to amino acid sequence of tyrosinase. sequencing of some cDNA clones positive in these screenings gave a nucleotide sequence of 1838 nucleotides including a open reading

Nuclear hormone receptor. Transcription factor that mediates the action of vitamin D3 by controlling the expression of hormone sensitive genes. Regulates transcription of hormone sensitive genes via its association with the WINAC complex, a chromatin-remodeling complex. Recruited to promoters via its interaction with the WINAC complex subunit BAZ1B/WSTF, which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeo