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full name
dehydrogenase E1 and transketolase domain containing 1

synonyms
AMOXAD, CMT2Q, DHTKD1, ENSG00000181192

HGNC
HGNC:23537

Entrez Gene
Gene:55526

ENSEMBL
ENSG00000181192

location
chr: 10
start: 12110916
stop: 12165227
strand: +

OMIM
OMIM:614984: DHTKD1 (Autosomal recessive inheritance)
OMIM:204750: 2-aminoadipic 2-oxoadipic aciduria
OMIM:615025: ?Charcot-Marie-Tooth disease, axonal, type 2Q

transcripts
ENST00000263035.4

pathways
Glyoxylate metabolism and glycine degradation [NCBI:1270180] [REACTOME:R-HSA-389661] [PUBMED:15956068]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives [NCBI:1270158] [REACTOME:R-HSA-71291]