Gene Summary: This HPGD gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. HPGD is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this HPGD 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]General information above from NCBI
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.
Subunit structure: Homodimer.
Subcellular location: Cytoplasm.
Tissue specificity: Detected in colon epithelium (at protein level).
Induction: Down-regulated by cortisol, dexamethasone and betamethasone. Down-regulated in colon cancer. Up-regulated by TGFB1.
Involvement in disease: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (PHOAR1) [MIM:259100]: A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cranioosteoarthropathy (COA) [MIM:259100]: A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. Note=The disease is caused by mutations affecting the gene represented in this entry.
Isolated congenital nail clubbing (ICNC) [MIM:119900]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
General information above from UniProt