C223632Level 4
KLHL3 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human KLHL3 wild-type allele is located in the vicinity of 5q31.2 and is approximately 119 kb in length. This allele, which encodes kelch-like protein 3, is involved in the regulation of ubiquitination and degradation of protein substrates in the kidney. Mutations in the gene are associated with pseudohypoaldosteronism type IID.
**Synonyms:** - FLJ20059 - KIAA1129 - Kelch (Drosophila)-Like 3 Gene - Kelch Like Family Member 3 wt Allele - Kelch-Like 3 (Drosophila) Gene - Kelch-Like 3 Gene - PHA2D
GET
/api/v1/systems/nci_thesaurus/nodes/C223632Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.