HTRA1 wt Allele

Preferred Label : HTRA1 wt Allele;

NCIt synonyms : ORF480; ARMD7; HtrA Serine Peptidase 1 wt Allele; HtrA; L56; PRSS11;

NCIt definition : Human HTRA1 wild-type allele is located in the vicinity of 10q26.3 and is approximately 53 kb in length. This allele, which encodes serine protease HTRA1 protein, is involved in the mediation of proteolysis. Variations in the promoter of the gene are associated with age-related macular degeneration type 7. Mutation of the gene is associated with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.;

GenBank Accession Number : AF097709;

Details

Origin ID

C101310;

UMLS CUI

C3540561;

Automatic exact mappings (from CISMeF team)
- HtrA serine peptidase 1 [ORDO Gene]
- Htra serine peptidase 1 [OMIM gene]
- Macular degeneration, age-related, 7 [OMIM Phenotype]
OMIM relation
- Htra serine peptidase 1 [OMIM gene]
See also inter- (CISMeF)
- age related macular degeneration 7 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Growth Regulation [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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