| HTRA1 |
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| Identifiers |
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| Aliases | HTRA1, ARMD7, CARASIL, HtrA, L56, ORF480, PRSS11, CADASIL2, HtrA serine peptidase 1 |
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| External IDs | OMIM: 602194; MGI: 1929076; HomoloGene: 31114; GeneCards: HTRA1; OMA:HTRA1 - orthologs |
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| Gene location (Mouse) |
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| | Chr. | Chromosome 7 (mouse) |
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| | Band | 7|7 F3 | Start | 130,537,841 bp |
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| End | 130,587,390 bp |
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| Wikidata |
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Serine protease HTRA1 is an enzyme that in humans is encoded by the HTRA1 gene. The HTRA1 protein is composed of four distinct protein domains. They are from amino-terminus to carboxyl-terminus an Insulin-like growth factor binding domain, a kazal domain, a trypsin-like peptidase domain and a PDZ domain.
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.
Mutations of this gene are responsible for the development of CARASIL, a genetic form of cerebral vasculopathy.