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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
- GenCC: TBCE
- Ensembl: ENSG00000284770
- 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
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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