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GeneQ18041843· pop 5· linked from 36 articles

DHTKD1

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Also 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
Position
12,068,926–12,125,946 (+)
Aliases
AAKAD, AMOXAD, CMT2Q, E1a, OADC-E1, OADH-E1
Ensembl
ENSG00000181192
RefSeq RNA
NM_018706.7
RefSeq protein
NP_061176.4

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].

Gene Ontology

Pathways

Lysine degradation - Homo sapiens (human)Tryptophan metabolism - Homo sapiens (human)MetabolismLysine catabolismMetabolism of amino acids and derivativesOADH complex synthesizes glutaryl-CoA from 2-OAIntegrated breast cancer pathway

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
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Show 8 more facts
HomoloGene ID
10278
found in taxon
Homo sapiens
exact match
identifiers.org/ncbigene/55526
genomic end
12123221
genomic start
12068954
expressed in
gonad
chromosome
human chromosome 10
cytogenetic location
10p14
Sources (7)

via Wikidata · CC0

~2 min read

Encyclopedic overview

5 sections
Contents
  • 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 ==

Excerpted from Wikipedia’s “DHTKD1” article, available under the CC BY-SA 4.0 licence.

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via Wikidata sitelinks · CC0