RS1 wt Allele - CISMeF

Preferred Label : RS1 wt Allele;

NCIt synonyms : XLRS1; Retinoschisin 1 wt Allele; RS; Retinoschisis (X-Linked, Juvenile) 1 Gene;

NCIt definition : Human RS1 wild-type allele is located in the vicinity of Xp22.13 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
- Retinoschisin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Aging [NCIt concept]
- Ligand Binding [NCIt concept]
- Maturation [NCIt concept]
- Phospholipid Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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