DNAH5 wt Allele

Preferred Label : DNAH5 wt Allele;

NCIt synonyms : HL1; PCD; Dynein Axonemal Heavy Chain 5 wt Allele; CILD3; Dynein, Axonemal, Heavy Polypeptide 5 Gene; Dynein, Axonemal, Heavy Chain 5 Gene; KTGNR; DNAHC5; KIAA1603; Dynein Heavy Chain 5 Gene; Dynein Heavy Chain 5, Axonemal Gene;

NCIt definition : Human DNAH5 wild-type allele is located in the vicinity of 5p15.2 and is approximately 321 kb in length. This allele, which encodes dynein axonemal heavy chain 5 protein, is involved in ciliary motion. Mutation of the gene is associated with primary ciliary dyskinesia 3.;

NCI Metathesaurus CUI : CL1915429;

GenBank Accession Number : AJ132090;

Details

Origin ID

C200785;

UMLS CUI

C5848995;

OMIM relation
- Dynein, axonemal, heavy chain 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Motility [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Microtubule Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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