Gene Symbol | HTRA1 |
Entrez Gene ID | 5654 |
Full Name | HtrA serine peptidase 1 |
Synonyms | ARMD7,CADASIL2,CARASIL,HtrA,L56,ORF480,PRSS11 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | {Macular degeneration, age-related, 7}, 610149 (3); {Macular degeneration, age-related, neovascular type}, 610149 (3); CARASIL syndrome, 600142 (3); Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3) |