full name
tubulin folding cofactor E

synonyms
HRD, KCS, KCS1, pac2, TBCE, ENSG00000116957

HGNC
HGNC:11582

Entrez Gene
Gene:6905

ENSEMBL
ENSG00000116957

location
chr: 1
start: 235530728
stop: 235612280
strand: +

OMIM
OMIM:604934: TBCE
OMIM:617207: Encephalopathy, progressive, with amyotrophy and optic atrophy
OMIM:241410: Hypoparathyroidism-retardation-dysmorphism syndrome
OMIM:244460: Kenny-Caffey syndrome, type 1

transcripts
NM_001079515.1
NM_003193.3

pathways
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Post-chaperonin tubulin folding pathway [NCBI:1268700] [REACTOME:R-HSA-389977] [PUBMED:17709011]
Protein folding [NCBI:1268693] [REACTOME:R-HSA-391251] [PUBMED:18395510] [PUBMED:15459659] [PUBMED:15519848]