DYNC2H1 wt Allele

Preferred Label : DYNC2H1 wt Allele;

NCIt synonyms : Dynein, Cytoplasmic, Heavy Polypeptide 2 Gene; DHC1B; SRPS2B; DHC2; Dynein Heavy Chain, Isotype 1B Gene; HDHC11; ATD3; DNCH2; SRTD3; DYH1B; Dynein Cytoplasmic 2 Heavy Chain 1 wt Allele; KIAA1997; Dynein, Cytoplasmic 2, Heavy Chain 1 Gene;

NCIt 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.;

GenBank Accession Number : AB082528;

Details

Origin ID

C216066;

OMIM relation
- Dynein, cytoplasmic 2, heavy chain 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q22.3 [NCIt concept]
gene_is_element_in_pathway
- Phagocytosis Pathway [NCIt concept]
- Salmonella Pathway [NCIt concept]
- Vasopressin-Regulated Water Reabsorption Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Microtubule Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Transport Process [NCIt concept]

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