DCTN1 wt Allele

Preferred Label : DCTN1 wt Allele;

NCIt synonyms : Dynactin 1 wt Allele; DAP-150; Dynactin 1 (p150, Glued (Drosophila) Homolog) Gene; p150(Glued), Drosophila, Homolog of Gene; P135; p150 Glued Homolog (Drosophila) Gene; DP-150;

NCIt definition : Human DCTN1 wild-type allele is located in the vicinity of 2p13 and is approximately 31 kb in length. This allele, which encodes dynactin subunit 1 protein, plays a role in the regulation of dynein-dependent transport. Mutation of the gene is associated with Perry syndrome, amyotrophic lateral sclerosis, and distal hereditary motor neuronopathy type VIIB (HMN7B).;

NCIt note : A fusion involving the DCTN1 gene and the ALK gene may be associated with inflammatory myofibroblastic tumor and spitzoid neoplasms. (COSMIC);

GenBank Accession Number : NM_004082;

Details

Origin ID

C122876;

UMLS CUI

C4049881;

OMIM relation
- Dynactin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p13 [NCIt concept]
gene_is_element_in_pathway
- Huntington's Disease Pathway [NCIt concept]
- N-Cadherin Signaling Pathway [NCIt concept]
- Vasopressin-Regulated Water Reabsorption Pathway [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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