TBCE wt Allele

Preferred Label : TBCE wt Allele;

NCIt synonyms : PEAMO; KCS1; HRD; KCS; Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism Gene; pac2; Tubulin Folding Cofactor E wt Allele; Kenny-Caffey Syndrome Gene;

NCIt definition : Human TBCE wild-type allele is located in the vicinity of 1q42.3 and is approximately 85 kb in length. This allele, which encodes tubulin-specific chaperone E protein, is involved in both tubulin folding and tubulin dimer dissociation. Mutations in the gene are associated with progressive encephalopathy with amyotrophy and optic atrophy, hypoparathyroidism-retardation-dysmorphism syndrome and Kenny-Caffey syndrome 1.;

NCI Metathesaurus CUI : CL1799083;

GenBank Accession Number : U61232;

Details

Origin ID

C190661;

UMLS CUI

C5780765;

Automatic exact mappings (from CISMeF team)
- Encephalopathy, progressive, with amyotrophy and optic atrophy [OMIM Phenotype]
- Kenny-caffey syndrome, type 1 [OMIM Phenotype]
- Proteasome assembly chaperone 2 [OMIM gene]
- keratoconjunctivitis sicca [DO Concept]
- tubulin folding cofactor E [ORDO Gene]
OMIM relation
- Tubulin-specific chaperone e [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- M Phase Process [NCIt concept]
- Microtubule Process [NCIt concept]
- Protein Folding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Tubulin Binding [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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