Orphanet: branched chain keto acid dehydrogenase kinase

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BCKDK - branched chain keto acid dehydrogenase kinase

Synonym(s) :
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 16p11.2
OMIM: 614901
HGNC: 16902
UniProtKB: O14874
Genatlas: BCKDK
GenCC: BCKDK
Ensembl: ENSG00000103507
IUPHAR-DB: 1939
Reactome: O14874
LOVD: BCKDK

Diseases list

Disease-causing germline mutation(s) (loss of function) in Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency ORPHA:308410

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (27)

Research activities on this gene

Specialised Social Services

Eurordis directory

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