HTRA1 HtrA serine peptidase 1
Gene ID: 5654, updated on 9-Dec-2024Gene type: protein coding
Also known as: L56; HtrA; ARMD7; ORF480; PRSS11; CARASIL; CADASIL2
- See all available tests in GTR for this gene
- Go to complete Gene record for HTRA1
- Go to Variation Viewer for HTRA1 variants
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
| Description | Tests |
|---|---|
| Age related macular degeneration 7 | not available |
| CARASIL syndrome | not available |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HTRA1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HTRA1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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