Gene: TBCE

Alternate names for this Gene: HRD|KCS|KCS1|PEAMO|pac2

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.3

Description of this Gene: tubulin folding cofactor E

Type of Gene: protein-coding

rs10802708 in TBCE gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1283368278 in TBCE gene and Dysmorphic features PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

PMID 15645691 2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

PMID 27666369 2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

PMID 2001103 1991 A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

PMID 9475091 1998 Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

PMID 7538982 1995 The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

rs758937799 in TBCE gene and HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

PMID 25097779 2014 New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman.

rs758937799 in TBCE gene and KENNY-CAFFEY SYNDROME, TYPE 1 PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

rs1283368278 in TBCE gene and Multiple congenital anomalies PMID 15645691 2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

PMID 9475091 1998 Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

PMID 2001103 1991 A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

PMID 7538982 1995 The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

PMID 27666369 2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

rs6429082 in TBCE gene and Obesity PMID 19557161 2009 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

rs6429082 in TBCE gene and adiposity PMID 19557161 2009 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

rs12405889 in TBCE gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.