RS1 wt Allele - CISMeF

Preferred Label : RS1 wt Allele;

NCIt synonyms : Retinoschisis (X-Linked, Juvenile) 1 wt Allele;

NCIt definition : Human RS1 wild-type allele is located within Xp22.2-p22.1 and is approximately 32 kb in length. This allele, which encodes retinoschisin protein, plays roles in retinal development and aging, and may have a role in cell-cell adhesion. Mutations in this gene are associated with X-linked juvenile retinoschisis.;

GenBank Accession Number : AF014459;

Details

Origin ID

C75572;

UMLS CUI

C2698939;

OMIM relation
- Retinoschisis 1, X-linked, juvenile [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp22.2-22.1 [NCIt concept]
gene_plays_role_in_process
- Aging [NCIt concept]
- Cell Adhesion Process [NCIt concept]
- Maturation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients