TBCE wt Allele

**Semantic type:** Gene or Genome

**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.

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