DHTKD1
Sign in to saveAlso known as AMOXAD, CMT2Q, dehydrogenase E1 and transketolase domain containing 1, AAKAD
Dehydrogenase E1 and transketolase domain containing 1 is a mitochondrial protein that in humans is encoded by the DHTKD1 gene. This gene encodes a component of the 2-oxoadipate dehydrogenase complex (OADHC) involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q.
Gene data
DHTKD1- Name
- dehydrogenase E1 and transketolase domain containing 1
- Type
- protein-coding
- Aliases
- AAKAD, AMOXAD, CMT2Q, E1a, OADC-E1, OADH-E1
This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013].
via MyGene.info
Gene · Ensembl
dehydrogenase E1 and transketolase domain containing 1
- Symbol
- DHTKD1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:12,068,926-12,125,946
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 10278
- exact match
- identifiers.org/ncbigene/55526
- genomic end
- 12123221
- genomic start
- 12068954
- cytogenetic location
- 10p14
Sources (7)
via Wikidata · CC0
~2 min read
Article
5 sectionsContents
- Structure
- Function
- Clinical significance
- References
- Further reading
Dehydrogenase E1 and transketolase domain containing 1 is a mitochondrial protein that in humans is encoded by the DHTKD1 gene. This gene encodes a component of the 2-oxoadipate dehydrogenase complex (OADHC) involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q.
== Structure ==