DHTKD1
Dehydrogenase E1 and Transketolase Domain Containing 1
Gene Information Card
| Symbol | DHTKD1 |
|---|---|
| Full Name | Dehydrogenase E1 and Transketolase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p14 |
| NCBI Gene ID | 55526 ncbi.nlm.nih.gov/gene/55526 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q96HY7 |
| OMIM ID | 614984 |
| HGNC ID | 23537 |
| Aliases | DHTK1, MGC138499, MGC138501, OGDHD1 |
Description
DHTKD1 encodes the E1 component of the 2-oxoglutarate dehydrogenase complex (OGDHC), a mitochondrial enzyme complex that catalyzes the decarboxylation of 2-oxoglutarate to succinyl-CoA in the tricarboxylic acid (TCA) cycle. The gene is also involved in lysine degradation. Mutations in DHTKD1 are associated with alpha-aminoadipic aciduria and Charcot-Marie-Tooth disease type 2Q.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alpha-aminoadipic aciduria | Loss-of-function mutations impair lysine degradation, leading to accumulation of alpha-aminoadipic acid | OMIM #204750 |
| Charcot-Marie-Tooth disease type 2Q | Missense mutations disrupt mitochondrial metabolism and axonal function | OMIM #615025 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Heart | 6.5 | Low |
| Brain | 5.2 | Low |
| Skeletal muscle | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.6 | Hepatocellular carcinoma |
| HEK 293 | 9.8 | Embryonic kidney |
| SH-SY5Y | 6.3 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1292G>A (p.Arg431His) | Missense | Rare | Impaired enzyme activity, associated with CMT2Q |
| c.1435C>T (p.Arg479Ter) | Nonsense | Rare | Loss of function, associated with alpha-aminoadipic aciduria |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations reduce or abolish enzyme activity, leading to metabolic disorders.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations may exert dominant-negative effects in the OGDHC complex.
View complete mutation data：
Gene Ontology (GO)
| • 2-oxoglutarate dehydrogenase complex | • oxoglutarate dehydrogenase (succinyl-transferring) activity |
| • mitochondrion | • TCA cycle |
| • lysine catabolic process |
Pathways
• TCA cycle (KEGG: hsa00020)
• Lysine degradation (KEGG: hsa00310)
Protein Summary
DHTKD1 encodes the E1 subunit of the 2-oxoglutarate dehydrogenase complex, a mitochondrial enzyme that catalyzes the conversion of 2-oxoglutarate to succinyl-CoA. The protein contains a thiamine pyrophosphate (TPP) binding domain and is essential for energy metabolism and amino acid catabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHTKD1 Knockout HEK293 Cell Line | EDJ-KQ13149 | Human | 55526 | Details Get a Quote |
| DHTKD1 Knockout HCT 116 Cell Line | EDJ-KQ41244 | Human | 55526 | Details Get a Quote |
| DHTKD1 Knockout A-549 Cell Line | EDJ-KQ42480 | Human | 55526 | Details Get a Quote |
| DHTKD1 Knockout HeLa Cell Line | EDJ-KQ42482 | Human | 55526 | Details Get a Quote |
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