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Gene: DHTKD1 (dehydrogenase E1 and transketolase domain containing 1) Homo sapiens
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Symbol: DHTKD1
Name: dehydrogenase E1 and transketolase domain containing 1
CRRD ID: 1317663
Description: Predicted to have oxoglutarate dehydrogenase (succinyl-transferring) activity and thiamine pyrophosphate binding activity. Involved in generation of precursor metabolites and energy. Localizes to mitochondrion. Implicated in 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth disease axonal type 2Q.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AMOXAD; CMT2Q; dehydrogenase E1 and transketolase domain-containing protein 1; DKFZp762M115; KIAA1630; MGC3090; probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1012,068,954 - 12,123,221 (+)EnsemblGRCh38hg38GRCh38
GRCh381012,068,954 - 12,123,221 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371012,110,916 - 12,165,227 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361012,150,940 - 12,205,230 (+)NCBINCBI36hg18NCBI36
Build 341012,150,976 - 12,205,229NCBI
Celera1012,040,496 - 12,094,736 (+)NCBI
Cytogenetic Map10p14NCBI
HuRef1012,028,394 - 12,082,077 (+)NCBIHuRef
CHM1_11012,110,884 - 12,165,186 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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Genomics

Comparative Map Data
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Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on DHTKD1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1317663
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-10-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.