Dhtkd1 Gene Summary [Mouse]
Predicted to enable 2-oxoadipate dehydrogenase activity; oxoglutarate dehydrogenase (succinyl-transferring) activity; and thiamine pyrophosphate binding activity. Acts upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in mitochondrion. Predicted to be part of oxoadipate dehydrogenase complex. Used to study 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. Human ortholog(s) of this gene implicated in 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q. Orthologous to human DHTKD1 (dehydrogenase E1 and transketolase domain containing 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Dhtkd1 |
| Official Name | dehydrogenase E1 and transketolase domain containing 1 [Source:MGI Symbol;Acc:MGI:2445096] |
| Ensembl ID | ENSMUSG00000025815 |
| Bio databases IDs | |
| Aliases | dehydrogenase E1 and transketolase domain containing 1 |
| Synonyms | AAKAD, AMOXAD, C330018I04RIK, CMT2Q, dehydrogenase E1 and transketolase domain containing 1, E1a, KIAA1630, LOC100362392, LOC100505258, LOC103694860, OADC-E1, OADH-E1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Dhtkd1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 2-oxoglutarate dehydrogenase C-terminal
- aldehyde or oxo group:disulfide oxidoreductase
- 2-oxoglutarate dehydrogenase, E1 component
- Transketolase, pyrimidine binding domain
- TPP_enzymes
- oxoglutarate dehydrogenase (lipoamide)
- Dehydrogenase E1 component
- enzyme
- protein binding
- kgd
- thiamine pyrophosphate-dependent enzyme pyrimidine binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- demyelination
- alpha-aminoadipic and alpha-ketoadipic aciduria
- hereditary disorder
- Charcot-Marie-Tooth disease axonal type 2Q
- progressive muscle weakness
- serous ovarian adenocarcinoma
- serous ovarian cancer
- aciduria
- alpha-aminoadipic aciduria
- motor dysfunction or movement disorder
phenotypes
- abnormal bone structure
- abnormal Schwann cell physiology
- abnormal amino acid metabolism
- abnormal axon morphology
- abnormal gastrocnemius morphology
- abnormal motor capabilities/coordination/movement
- abnormal myelin sheath morphology
- abnormal myelination
- abnormal nervous system morphology
- abnormal neuromuscular synapse morphology
- abnormal pancreatic islet morphology
- abnormal sarcomere morphology
- abnormal sciatic nerve morphology
- aciduria
- axon degeneration
- decreased circulating cholesterol level
- decreased circulating glucose level
- decreased circulating glycerol level
- decreased circulating triglyceride level
- decreased myelin sheath thickness
- decreased nerve conduction velocity
- demyelination
- impaired exercise endurance
- improved glucose tolerance
- increased Schwann cell number
- increased circulating creatine kinase level
- increased circulating insulin level
- increased circulating insulin-like growth factor I level
- increased circulating lactate dehydrogenase level
- increased circulating phospholipid level
- increased insulin secretion
- increased insulin sensitivity
- increased liver glycogen level
- increased mitochondria number
- increased mitochondria size
- increased respiratory quotient
- increased thermal nociceptive threshold
- muscular atrophy
- progressive muscle weakness
- tomacula
role in cell
- differentiation
- number
- signaling in
- abnormal morphology
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Dhtkd1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- generation of precursor metabolites and energy
- glycolysis
- hemopoietic progenitor cell differentiation
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- thiamine pyrophosphate binding
- protein binding
- oxoglutarate dehydrogenase (succinyl-transferring) activity