Description
Product Characteristics:
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.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: 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, FGFR3_HUMAN.
Target Information: This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009]