This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008]
The NDRG3 protein is a 41 kDa cytoplasmic protein that exists in three isoforms, the first of which is the canonical 41 kDa, 375 amino acid form. It is a member of the NDRG family of proteins and is involved in cell differentiation and negative regulation of cell growth.
The melanocortin family comprises the Alpha-, Beta- and Gamma- melanocyte stimulating hormones (MSH) and adrenocorticotrophin. The receptors for these hormones are seven-transmembrane G protein-coupled proteins that activate adenylyl cyclase. Five melanocortin receptors have been cloned and shown to exhibit different affinities and patterns of expression. MC1-R (MSH-R) is expressed in melanocytes and corticoadrenal tissue. MC2-R is the ACTH receptor and is expressed primarily in the adren
NCR2 (NKp44) is a member of the natural cytotoxicity receptor (NCR) family that is expressed on activated human NK cells. NCR2 displays a single extracellular Ig-like V domain and a transmembrane portion containing the charged residue (Lysine), likely involved in the association with KARAP/DAP12 molecules. Gene coding for NCR2 maps on human chromosome 6p21.1
This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul