Search for a gene
TBCE - tubulin folding cofactor E
- Synonym(s) : KCS1, pac2
- Previous symbols and names : HRD, KCS, Kenny-Caffey syndrome, hypoparathyroidism, growth and mental retardation, and dysmorphism, tubulin-specific chaperone e
- Type : gene with protein product
- Chromosomal location : 1q42.3
- OMIM: 604934
- HGNC: 11582
- UniProtKB: Q15813
- Genatlas: TBCE
- Ensembl: ENSG00000116957
- IUPHAR-DB: -
- Reactome: Q15813
- LOVD: TBCE
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive Kenny-Caffey syndrome
ORPHA:93324 
- Disease-causing germline mutation(s) in Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
ORPHA:496756 - Disease-causing germline mutation(s) in Sanjad-Sakati syndrome
ORPHA:2323
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.