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The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Arginase I which is expressed almost exclusively in the liver, catalyzes the conversion of arginine to ornithine and urea . The human arginase I gene, which maps to chromosome 6q23, encodes a 322 amino acid protein. Arginase I exists as a homotrimeric protein and contains a binuclear manganese cluster. Arginase II catalyzes the same reaction as arginase I, but differs in its tissue specificity and subcellular location. Specifically, arginase II localizes to the mitochondria. Arginase II is e
This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]
Placental lactogens, also referred to as chorionic somatomammotropin hormones, are protein hormones. They are produced in the mammalian placenta and are similar in structure and function to growth hormones. Together, placental lactogens and growth factors play an essential role to assure successful lactation after pregnancy. Placental lactogens also modify the metabolic state of the mother during pregnancy to supply energy to the fetus. Placental lactogen I is a member of the somatotropin/pr
CD74, also known as the MHC class II associated invariant chain (Ii), is a type II transmembrane protein which binds to the peptide binding groove of newly synthesized MHC class II alpha/beta heterodimers and prevents their premature association with endogenous polypeptides. CD74 is produced in molar excess over MHC class II and some of this is expressed by an unknown pathway on the cell surface independent of, or in association with, MHC class II molecules. The half life of CD74 on the cell