背景
This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009],
功能
catalytic activity:(5Z,13E,15S)-11-alpha,15-dihydroxy-9-oxoprost-5,13-dienoate + NAD(+) = (5Z,13E)-11-alpha-hydroxy-9,15-dioxoprost-5,13-dienoate + NADH.,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.,disease: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.,function:Inactivation of prostaglandins.,similarity:Belongs to th
