| Entrez Gene ID | 55526 |
|---|---|
| Official Gene Symbol | DHTKD1 (GeneCards) |
| Full name | dehydrogenase E1 and transketolase domain containing 1 |
| Location | 10p14 |
| Other ids | Vega : OTTHUMG00000017677 MIM : 614984 HGNC : HGNC:23537 Ensembl : ENSG00000181192 |
| Other names | CMT2Q, AMOXAD |
| Summary | 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29399 | 55526 | DHTKD1 | 10 | 12139947 | 12139947 | Autism Spectrum Disorders | MiSeq |