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The protein encoded by this gene is a lysosomal cysteine proteinase composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer disease, the most common cause of dementia. Overexpression of the encoded protein,
This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011]
Aromatase is a key enzyme in steroidogenesis and plays an important role in sexual differentiation, oestrogen biosynthesis, fertility and carcinogenesis. It is highly conserved amongst mammals, and is highly expressed in placental tissue. Many environmental chemicals may influence aromatase activity and thereby disrupt endocrine function.
This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the en
This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by Re
CEA-related cell adhesion molecules (CEACAM) belong to the carcinoembryonic antigen (CEA) family. It consists of seven CEACAM (CEACAM 1, CEACAM 3-CEACAM 8) and 11 pregnancy-specific glyco-protein (PSG 1-PSG 11) members. The CEA family proteins belong to the immunoglobulin (Ig) superfamily and are composed of one Ig variable-like (IgV) and a varying number (0-6) of Ig constant-like (IgC) domains. CEACAM molecules are membrane-bound either via a transmembrane domain or a glycosyl phosphatidyl