RTEL1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human RTEL1 wild-type allele is located in the vicinity of 20q13.33 and is approximately 38 kb in length. This allele, which encodes regulator of telomere elongation helicase 1 protein, is involved in telomere and chromosome maintenance. Mutation of the gene is associated with telomere-related pulmonary fibrosis and/or bone marrow failure 3 and dyskeratosis congenita types autosomal dominant 4 and autosomal recessive 5.

**Synonyms:** - C20orf41 - Chromosome 20 Open Reading Frame 41 Gene - DKCA4 - DKCB5 - DKFZP434C013 - KIAA1088 - NHL - PFBMFT3 - RTEL - Regulator of Telomere Elongation Helicase 1 wt Allele - bK3184A7.3