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

2012-08-01  

Identity

HGNC
HADHA
LOCATION
2p23.3
LOCUSID
3030
ALIAS
ECHA,GBP,HADH,LCEH,LCHAD,MTPA,TP-ALPHA
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375490332023An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations.0
378432792023Zfp335 establishes eTreg lineage and neonatal immune tolerance by targeting Hadha-mediated fatty acid oxidation.0
375490332023An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations.0
378432792023Zfp335 establishes eTreg lineage and neonatal immune tolerance by targeting Hadha-mediated fatty acid oxidation.0
348781522022Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.3
362246822022[HADHA Inhibits the Migration and Invasion of HTR-8/SVneo Cells by Regulating PI3K/AKT Signaling Pathway].0
348781522022Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.3
362246822022[HADHA Inhibits the Migration and Invasion of HTR-8/SVneo Cells by Regulating PI3K/AKT Signaling Pathway].0
328973972021Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.1
333934952021Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.22
348507792021Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor patients.1
328973972021Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.1
333934952021Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.22
348507792021Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor patients.1
315278282020Fatty acid beta oxidation enzyme HADHA is a novel potential therapeutic target in malignant lymphoma.13

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/case-report-explorer/haematological-explorer/