RBP4 wt Allele

Preferred Label : RBP4 wt Allele;

NCIt synonyms : PRO2222; Retinol-Binding Protein 4, Plasma Gene; MCOPCB10; Retinol Binding Protein 4 wt Allele; Retinol Binding Protein 4, Plasma Gene; Retinol-Binding Protein 4, Interstitial Gene; RDCCAS;

NCIt definition : Human RBP4 wild-type allele is located in the vicinity of 10q23.33 and is approximately 10 kb in length. This allele, which encodes retinol-binding protein 4, is involved in the transport of retinol. Mutation of the gene is associated with both isolated microphthalmia with coloboma and retinal dystrophy, iris coloboma and comedogenic acne syndrome.;

NCI Metathesaurus CUI : CL525062;

GenBank Accession Number : BC020633;

Details

Origin ID

C138097;

UMLS CUI

C4521356;

Automatic exact mappings (from CISMeF team)
- Retinal dystrophy, iris coloboma, and comedogenic acne syndrome [OMIM Phenotype]
OMIM relation
- Retinol-binding protein 4 [OMIM gene]
See also inter- (CISMeF)
- Microphthalmia, isolated, with coloboma 10 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q23.33 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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