EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase)

2014-08-01  

Identity

HGNC
LOCATION
3q27.2
LOCUSID
ALIAS
ECHD,FRTS3,L-PBE,LBFP,LBP,MFE1,PBFE
FUSION GENES

Other Information

Locus ID:

NCBI: 1962
MIM: 607037
HGNC: 3247
Ensembl: ENSG00000113790

Variants:

dbSNP: 1962
ClinVar: 1962
TCGA: ENSG00000113790
COSMIC: EHHADH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113790ENST00000231887Q08426
ENSG00000113790ENST00000440662C9JJE0
ENSG00000113790ENST00000456310Q08426

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
Lysine degradationKEGGko00310
Tryptophan metabolismKEGGko00380
beta-Alanine metabolismKEGGko00410
Propanoate metabolismKEGGko00640
Butanoate metabolismKEGGko00650
PPAR signaling pathwayKEGGko03320
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
Lysine degradationKEGGhsa00310
Tryptophan metabolismKEGGhsa00380
beta-Alanine metabolismKEGGhsa00410
Propanoate metabolismKEGGhsa00640
Butanoate metabolismKEGGhsa00650
PPAR signaling pathwayKEGGhsa03320
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Metabolic pathwaysKEGGhsa01100
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGhsa_M00032
beta-OxidationKEGGhsa_M00087
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoAKEGGhsa_M00013
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoAKEGGM00013
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGM00032
beta-OxidationKEGGM00087
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
244010502014Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.25
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54278/ehhadh