Species Human Entrez 5654 | Human Mouse Ensembl ENSG00000166033 | |
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Aliases HTRA1, ARMD7, CARASIL, HtrA, L56, ORF480, PRSS11, CADASIL2, HtrA serine peptidase 1 External IDs MGI: 1929076 HomoloGene: 31114 GeneCards: HTRA1 | ||
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.
References
HTRA1 Wikipedia(Text) CC BY-SA