DYNC2H1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human DYNC2H1 wild-type allele is located in the vicinity of 11q22.3 and is approximately 370 kb in length. This allele, which encodes cytoplasmic dynein 2 heavy chain protein, is involved in intraflagellar retrograde transport and cilia formation. Mutations in the gene are associated with short-rib thoracic dysplasia 3 with or without polydactyly.

**Synonyms:** - ATD3 - DHC1B - DHC1b - DHC2 - DNCH2 - DYH1B - Dynein Cytoplasmic 2 Heavy Chain 1 wt Allele - Dynein Heavy Chain, Isotype 1B Gene - Dynein, Cytoplasmic 2, Heavy Chain 1 Gene - Dynein, Cytoplasmic, Heavy Polypeptide 2 Gene - HDHC11 - KIAA1997 - SRPS2B - SRTD3 - hdhc11