C138097Level 5
RBP4 wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - MCOPCB10 - PRO2222 - RDCCAS - Retinol Binding Protein 4 wt Allele - Retinol Binding Protein 4, Plasma Gene - Retinol-Binding Protein 4, Interstitial Gene - Retinol-Binding Protein 4, Plasma Gene
GET
/api/v1/systems/nci_thesaurus/nodes/C138097Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.