HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta)

2019-04-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
ECHB,MSTP029,MTPB,TP-BETA
FUSION GENES

Other Information

Locus ID:

NCBI: 3032
MIM: 143450
HGNC: 4803
Ensembl: ENSG00000138029

Variants:

dbSNP: 3032
ClinVar: 3032
TCGA: ENSG00000138029
COSMIC: HADHB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138029ENST00000317799P55084
ENSG00000138029ENST00000405867B5MD38
ENSG00000138029ENST00000412805C9K0M0
ENSG00000138029ENST00000425035C9JE81
ENSG00000138029ENST00000448743C9JEY0
ENSG00000138029ENST00000537713F5GZQ3
ENSG00000138029ENST00000545822P55084

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Fatty acid elongationKEGGko00062
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
Fatty acid elongationKEGGhsa00062
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
Metabolic pathwaysKEGGhsa01100
Fatty acid biosynthesis, elongation, mitochondriaKEGGhsa_M00085
beta-OxidationKEGGhsa_M00087
Fatty acid biosynthesis, elongation, mitochondriaKEGGM00085
beta-OxidationKEGGM00087
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
345310362022HADHB, a fatty acid beta-oxidation enzyme, is a potential prognostic predictor in malignant lymphoma.15
345310362022HADHB, a fatty acid beta-oxidation enzyme, is a potential prognostic predictor in malignant lymphoma.15
337440962021MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.15
337440962021MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.15
319804582020Targeting viperin to the mitochondrion inhibits the thiolase activity of the trifunctional enzyme complex.14
319804582020Targeting viperin to the mitochondrion inhibits the thiolase activity of the trifunctional enzyme complex.14
315216242019Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.3
315216242019Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.3
295076482018Integrated analyses of multi-omics reveal global patterns of methylation and hydroxymethylation and screen the tumor suppressive roles of HADHB in colorectal cancer.21
299566462018HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.4
295076482018Integrated analyses of multi-omics reveal global patterns of methylation and hydroxymethylation and screen the tumor suppressive roles of HADHB in colorectal cancer.21
299566462018HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.4
261092582016Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.12
261092582016Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.12
258163182015Japanese encephalitis virus nonstructural protein NS5 interacts with mitochondrial trifunctional protein and impairs fatty acid β-oxidation.25

Citation

Dessen P

HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57812/hadhb-(hydroxyacyl-coa-dehydrogenase-trifunctional-multienzyme-complex-subunit-beta)