DYNC1H1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human DYNC1H1 wild-type allele is located in the vicinity of 14q32.31 and is approximately 92 kb in length. This allele, which encodes cytoplasmic dynein 1 heavy chain 1 protein, is involved in intracellular trafficking. Mutations in the gene are associated with axonal Charcot-Marie-Tooth disease type 2O, complex cortical dysplasia with other brain malformations 13 (autosomal dominant intellectual developmental disorder 13) and lower extremity-predominant spinal muscular atrophy 1.

**Synonyms:** - CDCBM13 - CMT2O - DHC1 - DHC1A - DHC1a - DNCH1 - DNCHC1 - DNCL - DNECL - DYHC - Dnchc1 - Dynein Cytoplasmic 1 Heavy Chain 1 wt Allele - Dynein Heavy Chain, Cytosolic Gene - Dynein Heavy Polypeptide, Cytoplasmic Gene - Dynein, Cytoplasmic 1, Heavy Polypeptide 1 Gene - Dynein, Cytoplasmic, Heavy Polypeptide 1 Gene - Dynein, Cytoplasmic-Like Gene - HL-3 - KIAA0325 - SMALED1 - p22