DHTKD1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DHTKD1 |
| Official Name | dehydrogenase E1 and transketolase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23537] |
| Ensembl ID | ENSG00000181192 |
| 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 | Human, Homo sapiens |
| 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 human 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
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 human 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