The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used, adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described.
Synonyms: FGFR3 phospho Y724, FGFR3 phospho Tyr724, p-FGFR3 phospho Y724, ACH, CD 333, CD333, CD333 antigen, CEK 2, CEK2, FGFR 3, Fibroblast growth factor receptor 3 achondroplasia thanatophoric dwarfism, Fibroblast growth factor receptor 3, Heparin binding growth factor receptor, HSFGFR3EX, Hydroxyaryl protein kinase, JTK 4, JTK4, MFR 3, SAM 3, Tyrosine kinase JTK 4, Tyrosine kinase JTK4, Z FGFR 3.