STRA6 wt Allele

Preferred Label : STRA6 wt Allele;

NCIt synonyms : MCOPCB8; FLJ12541; PP14296; Stimulated By Retinoic Acid 6 wt Allele; MCOPS9; Stimulated By Retinoic Acid Gene 6 Homolog (Mouse) Gene; UNQ3126/PRO10282/PRO19578;

NCIt definition : Human STRA6 wild-type allele is located in the vicinity of 15q24.1 and is approximately 33 kb in length. This allele, which encodes stimulated by retinoic acid gene 6 protein homolog, plays a role in both retinol metabolism and organ development. Mutation of the gene is associated with both syndromic microphthalmia type 9 and isolated colobomatous microphthalmia.;

GenBank Accession Number : AF352728;

Details

Origin ID

C104694;

UMLS CUI

C3540550;

Automatic exact mappings (from CISMeF team)
- Anophthalmia - pulmonary hypoplasia [ICD-11 More detail]
- Matthew-Wood syndrome [ORDO Disease]
- Microphthalmia, syndromic 9 [OMIM Phenotype]
- anophthalmia with pulmonary hypoplasia [MeSH Supplementary Concept]
- signaling receptor and transporter of retinol STRA6 [ORDO Gene]
- syndromic microphthalmia 9 [DO Concept]
OMIM relation
- Stimulated by retinoic acid 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Organogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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