Preferred Label : DYNC1H1 wt Allele;
NCIt synonyms : Dynein, Cytoplasmic, Heavy Polypeptide 1 Gene; DHC1A; CDCBM13; p22; DNCL; Dynein, Cytoplasmic-Like Gene; DNCHC1; Dynein Heavy Polypeptide, Cytoplasmic Gene; Dynein, Cytoplasmic 1, Heavy Polypeptide 1 Gene; Dynein Cytoplasmic 1 Heavy Chain 1 wt Allele; KIAA0325; CMT2O; Dynein Heavy Chain, Cytosolic Gene; SMALED1; DYHC; DHC1; DNCH1; DNECL; HL-3;
NCIt 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.;
NCI Metathesaurus CUI : CL1915107;
GenBank Accession Number : AB002323;
Origin ID : C200843;
UMLS CUI : C5848997;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
