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- Table of Contents
Facts about Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial.
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Human | |
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Gene Name: | DHTKD1 |
Uniprot: | Q96HY7 |
Entrez: | 55526 |
Belongs to: |
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alpha-ketoglutarate dehydrogenase family |
dehydrogenase E1 and transketolase domain containing 1; Dehydrogenase E1 and transketolase domain-containing protein 1; DKFZp762M115; EC 1.2.4.2; KIAA1630DKFZP762M115; MGC3090; probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
Mass (kDA):
103.077 kDA
Human | |
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Location: | 10p14 |
Sequence: | 10; NC_000010.11 (12068954..12123221) |
Mitochondrion.
PMID: 23141294 by Xu W.Y., et al. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
PMID: 23141293 by Danhauser K., et al. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.