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

The protein encoded by this gene is a member of a family that includes putative ATP-binding proteins involved in vesicle transport and fusion, 26S proteasome function, and assembly of peroxisomes. This protein, as a structural protein, is associated with clathrin, and heat-shock protein Hsc70, to form a complex. It has been implicated in a number of cellular events that are regulated during mitosis, including homotypic membrane fusion, spindle pole body function, and ubiquitin-dependent pro

This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune respons