機能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.
関連疾患Defects in TBCE are a cause of hypoparathyroidism-retardation-dysmorphism syndrome (HRD) [MIM:241410]; also known as hypoparathyroidism with short stature, mental retardation, and seizures or Sanjad-Sakati syndrome. HRD is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. Defects in TBCE are the cause of Kenny-Caffey syndrome type 1 (KCS1) [MIM:244460]. KCS1 is similar to HRD with the additional features of osteosclerosis and recurrent bacterial infections.
配列類似性Belongs to the TBCE family. Contains 1 CAP-Gly domain. Contains 7 LRR (leucine-rich) repeats. Contains 1 LRRCT domain.