Serine protease HTRA1
Serine protease HTRA1 is an enzyme that in humans is encoded by the HTRA1 gene.[5][6] 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.
Mutations of this gene are responsible for the development of CARASIL, a genetic form of cerebral vasculopathy.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000166033 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006205 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Zumbrunn J, Trueb B (Jan 1997). "Primary structure of a putative serine protease specific for IGF-binding proteins". FEBS Lett. 398 (2–3): 187–92. doi:10.1016/S0014-5793(96)01229-X. PMID 8977104.
- ^ "Entrez Gene: HTRA1 HtrA serine peptidase 1".
External links
- GeneReviews/NCBI/NIH/UW entry on CARASIL Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Maeda Syndrome
- OMIM entries on CARASIL
Further reading
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