DHTKD1 Chromosome 10
Dehydrogenase E1 and transketolase domain containing 1
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What This Gene Does
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 Info
Gene Group
"Oxoglutarate dehydrogenase family|Oxoadipate dehydrogenase complex subunits"
Locus Type
gene with protein product
Location
10p14
Ensembl
ENSG00000181192
Associated Conditions (10)
2-aminoadipic 2-oxoadipic aciduria
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2A2
Tip-toe gait
Inborn disorder of lysine and hydroxylysine metabolism
DHTKD1-related disorder
Charcot-Marie-Tooth disease axonal type 2Q
Thymoma
Nonpapillary renal cell carcinoma
Glioma susceptibility 1
Key Variants
RS117225135
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2A2
Health Risk
RS138884194
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2Q
Health Risk
RS145427732
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases
Health Risk
RS149066296
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS1564385081
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease type 2A2, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS199541122
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS200722918
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS201455968
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS35442324
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS367981696
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS374421488
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, DHTKD1-related disorder, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
RS746248223
Conflicting classifications of pathogenicity
2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS764591027 | Health Risk | Pathogenic | 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria |
| RS778217501 | Health Risk | Pathogenic | 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria |
| RS778263250 | Health Risk | Pathogenic | 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria |
| RS780313786 | Health Risk | Pathogenic | 2-aminoadipic 2-oxoadipic aciduria, Glioma susceptibility 1, 2-aminoadipic 2-oxoadipic aciduria |
| RS919130135 | Health Risk | Pathogenic | Inborn genetic diseases, 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases |
| RS1271803838 | Health Risk | Pathogenic/Likely pathogenic | 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria |
| RS1281526839 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease axonal type 2Q |
| RS1335731178 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Q, Charcot-Marie-Tooth disease axonal type 2Q |
| RS1554791360 | Health Risk | Pathogenic/Likely pathogenic | 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria |
| RS201369986 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria, DHTKD1-related disorder |
| RS760386662 | Health Risk | Pathogenic/Likely pathogenic | 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria |
| RS769639705 | Health Risk | Pathogenic/Likely pathogenic | DHTKD1-related disorder, 2-aminoadipic 2-oxoadipic aciduria, DHTKD1-related disorder |