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
Gene: B3GALNT2
Alternate names for this Gene: B3GalNAc-T2|MDDGA11
Gene Summary: This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described.
Gene is located in Chromosome: 1
Location in Chromosome : 1q42.3
Description of this Gene: beta-1,3-N-acetylgalactosaminyltransferase 2
Type of Gene: protein-coding
rs746593718 in
TBCE;B3GALNT2 gene and
Dysmorphic features
PMID 9475091 1998 Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
PMID 27666369 2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
PMID 7538982 1995 The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.
PMID 15645691 2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
PMID 2001103 1991 A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.
rs746593718 in
TBCE;B3GALNT2 gene and
Multiple congenital anomalies
PMID 27666369 2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
PMID 9475091 1998 Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
PMID 15645691 2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
PMID 7538982 1995 The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.
PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
PMID 2001103 1991 A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.