HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)

2012-08-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
ECHA,GBP,HADH,LCEH,LCHAD,MTPA,TP-ALPHA
FUSION GENES

Other Information

Locus ID:

NCBI: 3030
MIM: 600890
HGNC: 4801
Ensembl: ENSG00000084754

Variants:

dbSNP: 3030
ClinVar: 3030
TCGA: ENSG00000084754
COSMIC: HADHA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000084754ENST00000380649P40939
ENSG00000084754ENST00000380649E9KL44
ENSG00000084754ENST00000492433H0YFD6
ENSG00000084754ENST00000643057A0A2R8YDM1
ENSG00000084754ENST00000643063A0A2R8Y688
ENSG00000084754ENST00000643233A0A2R8YDM1
ENSG00000084754ENST00000644428A0A2R8YG21
ENSG00000084754ENST00000645274A0A2R8Y4F5
ENSG00000084754ENST00000646031A0A2R8Y4E0
ENSG00000084754ENST00000646483P40939

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Fatty acid elongationKEGGko00062
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
Lysine degradationKEGGko00310
Tryptophan metabolismKEGGko00380
beta-Alanine metabolismKEGGko00410
Propanoate metabolismKEGGko00640
Butanoate metabolismKEGGko00650
Biosynthesis of unsaturated fatty acidsKEGGko01040
Fatty acid elongationKEGGhsa00062
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
Lysine degradationKEGGhsa00310
Tryptophan metabolismKEGGhsa00380
beta-Alanine metabolismKEGGhsa00410
Propanoate metabolismKEGGhsa00640
Butanoate metabolismKEGGhsa00650
Biosynthesis of unsaturated fatty acidsKEGGhsa01040
Metabolic pathwaysKEGGhsa01100
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGhsa_M00032
Fatty acid biosynthesis, elongation, mitochondriaKEGGhsa_M00085
beta-OxidationKEGGhsa_M00087
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoAKEGGhsa_M00013
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoAKEGGM00013
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGM00032
Fatty acid biosynthesis, elongation, mitochondriaKEGGM00085
beta-OxidationKEGGM00087
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289
mitochondrial fatty acid beta-oxidation of saturated fatty acidsREACTOMER-HSA-77286
Beta oxidation of palmitoyl-CoA to myristoyl-CoAREACTOMER-HSA-77305
Beta oxidation of myristoyl-CoA to lauroyl-CoAREACTOMER-HSA-77285
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoAREACTOMER-HSA-77310
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoAREACTOMER-HSA-77346
Beta oxidation of octanoyl-CoA to hexanoyl-CoAREACTOMER-HSA-77348
Beta oxidation of hexanoyl-CoA to butanoyl-CoAREACTOMER-HSA-77350
mitochondrial fatty acid beta-oxidation of unsaturated fatty acidsREACTOMER-HSA-77288
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Acyl chain remodeling of CLREACTOMER-HSA-1482798

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
205322022010Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.34
197379252009Identification of the human mitochondrial linoleoyl-coenzyme A monolysocardiolipin acyltransferase (MLCL AT-1).33
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25
231527872012Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidation.23
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
146309902004General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
124133762002Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.16
153477682004Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.15

Citation

Dessen P

HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52828/hadha