DKC1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human DKC1 wild-type allele is located in the vicinity of Xq28 and is approximately 15 kb in length. This allele, which encodes H/ACA ribonucleoprotein complex subunit 4 protein, plays a role in the stabilization and maintenance of telomerase and H/ACA small nucleolar RNA ribonucleoprotein biogenesis. Mutation of the gene is associated with both Hoyeraal-Hreidarsson syndrome and X-linked dyskeratosis congenita.

**Synonyms:** - CBF5 - DKC - DKCX - Dyskeratosis Congenita 1, Dyskerin Gene - Dyskerin Pseudouridine Synthase 1 wt Allele - NAP57 - NOLA4 - XAP101