C223625Level 4
RNPC3 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human RNPC3 wild-type allele is located in the vicinity of 1p21.1 and is approximately 30 kb in length. This allele, which encodes RNA-binding region-containing protein 3, is involved in the removal of U12-type introns from pre-mRNA transcripts. Mutations in the gene are associated with combined or isolated pituitary hormone deficiency 7.
**Synonyms:** - CPHD7 - FLJ20008 - IGHD5 - KIAA1839 - RBM40 - RNA Binding Region (RNP1, RRM) Containing 3 wt Allele - RNP - SNRNP65 - U11/U12 Small Nuclear Ribonucleoprotein, 65-kD Protein Gene - U11/U12, SnRNP 65-kD Protein Gene
GET
/api/v1/systems/nci_thesaurus/nodes/C223625Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.