TBCE gene

tubulin folding cofactor E

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

Tubulin-folding protein; involved in the second step of the tubulin folding pathway. Seems to be implicated in the maintenance of the neuronal microtubule network. Involved in regulation of tubulin heterodimer dissociation.

From NCBI Gene:

  • Kenny-Caffey syndrome type 1
  • Hypoparathyroidism retardation dysmorphism syndrome

From UniProt:

Hypoparathyroidism-retardation-dysmorphism syndrome (HRD): Autosomal recessive disorder reported almost exclusively in Middle Eastern populations. [MIM:241410]

Kenny-Caffey syndrome 1 (KCS1): An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. [MIM:244460]

Cytogenetic Location: 1q42.3, which is the long (q) arm of chromosome 1 at position 42.3

Molecular Location: base pairs 235,367,360 to 235,448,968 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q42.3, which is the long (q) arm of chromosome 1 at position 42.3
  • HRD
  • KCS
  • KCS1
  • pac2