TUBB3 wt Allele

Preferred Label : TUBB3 wt Allele;

NCIt synonyms : TUBB4; CDCBM; CFEOM3A; beta-4; Tubulin Beta 3 Class III wt Allele; CFEOM3; Tubulin, Beta-3 Gene; Tubulin, Beta 3 Class III Gene; FEOM3; Tubulin, Beta, Class III Gene; Fibrosis of Extraocular Muscles, Congenital, 3 Gene;

NCIt definition : Human TUBB3 wild-type allele is located in the vicinity of 16q24.3 and is approximately 17 kb in length. This allele, which encodes tubulin beta-3 chain protein, plays a role in maintaining microtubule structure.;

GenBank Accession Number : BC000748;

Details

Origin ID

C104243;

UMLS CUI

C3539818;

Automatic exact mappings (from CISMeF team)
- Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [OMIM Phenotype]
- Tubulin, beta-3 [OMIM gene]
- Tubulin, beta-4a [OMIM gene]
- adaptor related protein complex 4 subunit beta 1 [ORDO Gene]
- complex cortical dysplasia with other brain malformations [DO Concept]
- fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [MeSH Supplementary Concept]
- tubulin beta 3 class III [ORDO Gene]
- tubulin beta 4A class IVa [ORDO Gene]
OMIM relation
- Tubulin, beta-3 [OMIM gene]
See also inter- (CISMeF)
- Cortical dysplasia, complex, with other brain malformations 1 [OMIM Phenotype]
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
- 16q24.3 [NCIt concept]
gene_is_element_in_pathway
- Gap Junction Assembly Pathway [NCIt concept]
- Pathogenic Escherichia coli Infection Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
gene_plays_role_in_process
- 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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