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HTRA1 HtrA serine peptidase 1

Gene ID: 5654, updated on 27-Nov-2024
Gene type: protein coding
Also known as: L56; HtrA; ARMD7; ORF480; PRSS11; CARASIL; CADASIL2

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Age related macular degeneration 7
MedGen: C1857813OMIM: 610149GeneReviews: Not available
not available
CARASIL syndrome
MedGen: C1838577OMIM: 600142GeneReviews: HTRA1 Disorder
not available
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
MedGen: C4225211OMIM: 616779GeneReviews: HTRA1 Disorder
not available
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
GeneReviews: Not available
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
GeneReviews: Not available
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
GeneReviews: Not available
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
GeneReviews: Not available
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
GeneReviews: Not available
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
GeneReviews: Not available
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
GeneReviews: Not available
HTRA1 promoter polymorphism in wet age-related macular degeneration.
GeneReviews: Not available
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
GeneReviews: Not available
Seven new loci associated with age-related macular degeneration.
GeneReviews: Not available

Genomic context

Location:
10q26.13
Sequence:
Chromosome: 10; NC_000010.11 (122461553..122514907)
Total number of exons:
9

Links

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