DHTKD1 dehydrogenase E1 and transketolase domain containing 1
Gene ID: 55526, updated on 27-Nov-2024Gene type: protein coding
Also known as: E1a; AAKAD; CMT2Q; AMOXAD; OADC-E1; OADH-E1
- See all available tests in GTR for this gene
- Go to complete Gene record for DHTKD1
- Go to Variation Viewer for DHTKD1 variants
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]
Associated conditions
Genomic context
- Location:
- 10p14
- Sequence:
- Chromosome: 10; NC_000010.11 (12068954..12123221)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DHTKD1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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