Short chain dehydrogenase/reductase family 36C member 1
機能Prostaglandin inactivation. Contributes to the regulation of events that are under the control of prostaglandin levels. Catalyzes the NAD-dependent dehydrogenation of lipoxin A4 to form 15-oxo-lipoxin A4. Inhibits in vivo proliferation of colon cancer cells.
組織特異性Detected in colon epithelium (at protein level).
関連疾患Defects in HPGD are the cause of primary hypertrophic osteoathropathy autosomal recessive (PHOAR) [MIM:259100]; also known as pachydermoperiostosis autosomal recessive. Primary hypertrophic osteoarthropathy is characterized by digital clubbing, osterarthropathy, variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Defects in HPGD are the cause of cranioosteoarthropathy (COA) [MIM:259100]. Clinical features include infantile onset of swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. Defects in HPGD are a cause of isolated congenital nail clubbing (ICNC) [MIM:119900]; also called clubbing of digits or hereditary acropachy. ICNC is a rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved.
配列類似性Belongs to the short-chain dehydrogenases/reductases (SDR) family.