TUBB4A wt Allele

Preferred Label : TUBB4A wt Allele;

NCIt synonyms : TUBB4; TUBB5; Tubulin, Beta 4 Class IVa Gene; DYT4; Tubulin, Beta, 5 Gene; beta-5; Tubulin, Beta-4A Gene; Tubulin, Beta, Class IVa Gene; Dystonia 4, Torsion (Autosomal Dominant) Gene; Tubulin, Beta 4 Gene; Class IVa Beta-Tubulin Gene; Tubulin Beta 4A Class IVa wt Allele;

NCIt definition : Human TUBB4A wild-type allele is located in the vicinity of 19p13.3 and is approximately 9 kb in length. This allele, which encodes tubulin beta-4A chain protein, plays a role in microtubule structure and function. Mutations in the gene are associated with hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4.;

NCI Metathesaurus CUI : CL1771627;

GenBank Accession Number : AK075307;

Details

Origin ID

C183376;

UMLS CUI

C5575308;

Automatic exact mappings (from CISMeF team)
- Adaptor-related protein complex 5, beta-1 subunit [OMIM gene]
- Dystonia 4, torsion, autosomal dominant [OMIM Phenotype]
- Primary dystonia, DYT4 type [ORDO Disease]
- Tubulin, beta [OMIM gene]
- Tubulin, beta-3 [OMIM gene]
- Tubulin, beta-4a [OMIM gene]
- tubulin beta 4A class IVa [ORDO Gene]
- tubulin beta class I [ORDO Gene]
OMIM relation
- Tubulin, beta-4a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.3 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Gap Junction Assembly Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
- Pathogenic Escherichia coli Infection Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
- Prion Disease Pathway [NCIt concept]
- Salmonella Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [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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