Identity
HGNC
LOCATION
10p14
LOCUSID
ALIAS
AAKAD,AMOXAD,CMT2Q
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55526
MIM: 614984
HGNC: 23537
Ensembl: ENSG00000181192
Variants:
dbSNP: 55526
ClinVar: 55526
TCGA: ENSG00000181192
COSMIC: DHTKD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000181192 | ENST00000263035 | Q96HY7 |
| ENSG00000181192 | ENST00000415935 | H7C1J3 |
| ENSG00000181192 | ENST00000437298 | C9JWN1 |
| ENSG00000181192 | ENST00000448829 | H7C149 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism | REACTOME | R-HSA-1430728 |
| Metabolism of amino acids and derivatives | REACTOME | R-HSA-71291 |
| Glyoxylate metabolism and glycine degradation | REACTOME | R-HSA-389661 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34484123 | 2021 | Knock-Out of DHTKD1 Alters Mitochondrial Respiration and Function, and May Represent a Novel Pathway in Cardiometabolic Disease Risk. | 12 |
| 35052424 | 2021 | Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients. | 5 |
| 34484123 | 2021 | Knock-Out of DHTKD1 Alters Mitochondrial Respiration and Function, and May Represent a Novel Pathway in Cardiometabolic Disease Risk. | 12 |
| 35052424 | 2021 | Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients. | 5 |
| 32024885 | 2020 | Synthetic analogues of 2-oxo acids discriminate metabolic contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases in mammalian cells and tissues. | 17 |
| 32160276 | 2020 | DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo. | 16 |
| 32303640 | 2020 | Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism. | 5 |
| 32633484 | 2020 | Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex. | 9 |
| 32024885 | 2020 | Synthetic analogues of 2-oxo acids discriminate metabolic contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases in mammalian cells and tissues. | 17 |
| 32160276 | 2020 | DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo. | 16 |
| 32303640 | 2020 | Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism. | 5 |
| 32633484 | 2020 | Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex. | 9 |
| 25860818 | 2015 | Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. | 20 |
| 25860818 | 2015 | Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. | 20 |
| 24076469 | 2013 | DHTKD1 is essential for mitochondrial biogenesis and function maintenance. | 32 |
Citation
Dessen P
DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62476/dhtkd1-(dehydrogenase-e1-and-transketolase-domain-containing-1)
