DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
10p14
LOCUSID
ALIAS
AAKAD,AMOXAD,CMT2Q
FUSION GENES

Other Information

Locus ID:

NCBI: 55526
MIM: 614984
HGNC: 23537
Ensembl: ENSG00000181192

Variants:

dbSNP: 55526
ClinVar: 55526
TCGA: ENSG00000181192
COSMIC: DHTKD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181192ENST00000263035Q96HY7
ENSG00000181192ENST00000415935H7C1J3
ENSG00000181192ENST00000437298C9JWN1
ENSG00000181192ENST00000448829H7C149

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
231412932012DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.26
240764692013DHTKD1 is essential for mitochondrial biogenesis and function maintenance.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
231412942012A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.12
258608182015Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.7

Citation

Dessen P

DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62476/dhtkd1