RP2 wt Allele - CISMeF

Preferred Label : RP2 wt Allele;

NCIt synonyms : Retinitis Pigmentosa 2 (X-Linked Recessive) wt Allele; DELXp11.3; NME10; TBCCD2; XRP2;

NCIt definition : Human RP2 wild-type allele is located within Xp11.4-Xp11.21 and is approximately 45 kb in length. This allele, which encodes protein XRP2, plays a role in photoreceptor development. Mutations in this gene are associated with X-linked mental retardation with retinitis pigmentosa.;

GenBank Accession Number : AJ007590;

Details

Origin ID

C75566;

UMLS CUI

C2698938;

OMIM relation
- Retinitis pigmentosa 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp11.4-p11.21 [NCIt concept]
gene_plays_role_in_process
- Protein Folding [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Sight [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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