Orphanet: dehydrogenase E1 and transketolase domain containing 1

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DHTKD1 - dehydrogenase E1 and transketolase domain containing 1

Synonym(s) : CMT2Q, DKFZP762M115, KIAA1630, MGC3090
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 10p14
OMIM: 614984
HGNC: 23537
UniProtKB: Q96HY7
Genatlas: DHTKD1
Ensembl: ENSG00000181192
IUPHAR-DB: -
Reactome: Q96HY7
LOVD: DHTKD1

Diseases list

Disease-causing germline mutation(s) in 2-aminoadipic 2-oxoadipic aciduria ORPHA:79154
Disease-causing germline mutation(s) (loss of function) in Autosomal dominant Charcot-Marie-Tooth disease type 2Q ORPHA:329258

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Diagnostic tests (30)

Research activities on this gene

Specialised Social Services

Eurordis directory

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