HADH (hydroxyacyl-CoA dehydrogenase)

2014-11-01 Affiliation

Identity

HGNC

HADH

LOCATION

4q25

LOCUSID

3033

ALIAS

HAD,HADH1,HADHSC,HCDH,HHF4,MSCHAD,SCHAD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3033
MIM: 601609
HGNC: 4799
Ensembl: ENSG00000138796

Variants:

dbSNP: 3033
ClinVar: 3033
TCGA: ENSG00000138796
COSMIC: HADH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000138796	ENST00000309522	Q16836
ENSG00000138796	ENST00000309522	A0A140VK76
ENSG00000138796	ENST00000403312	A0A0A0MSE2
ENSG00000138796	ENST00000505878	E9PF18
ENSG00000138796	ENST00000511742	J3KR89
ENSG00000138796	ENST00000603302	Q16836
ENSG00000138796	ENST00000626637	A0A0D9SFP2
ENSG00000138796	ENST00000638559	A0A1W2PNM1
ENSG00000138796	ENST00000638621	A0A1W2PQ78
ENSG00000138796	ENST00000639146	A0A1W2PQV5
ENSG00000138796	ENST00000639335	A0A1W2PP40
ENSG00000138796	ENST00000639698	A0A1W2PRT2
ENSG00000138796	ENST00000639784	A0A1W2PQ55
ENSG00000138796	ENST00000640048	A0A1W2PQC2
ENSG00000138796	ENST00000640060	J3KR89
ENSG00000138796	ENST00000640586	A0A1W2PRM6

Expression (GTEx)

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

Pathway	Source	External ID
Fatty acid elongation	KEGG	ko00062
Fatty acid degradation	KEGG	ko00071
Valine, leucine and isoleucine degradation	KEGG	ko00280
Lysine degradation	KEGG	ko00310
Tryptophan metabolism	KEGG	ko00380
Butanoate metabolism	KEGG	ko00650
Fatty acid elongation	KEGG	hsa00062
Fatty acid degradation	KEGG	hsa00071
Valine, leucine and isoleucine degradation	KEGG	hsa00280
Lysine degradation	KEGG	hsa00310
Tryptophan metabolism	KEGG	hsa00380
Butanoate metabolism	KEGG	hsa00650
Metabolic pathways	KEGG	hsa01100
Lysine degradation, lysine => saccharopine => acetoacetyl-CoA	KEGG	hsa_M00032
Fatty acid biosynthesis, elongation, mitochondria	KEGG	hsa_M00085
beta-Oxidation	KEGG	hsa_M00087
Lysine degradation, lysine => saccharopine => acetoacetyl-CoA	KEGG	M00032
Fatty acid biosynthesis, elongation, mitochondria	KEGG	M00085
beta-Oxidation	KEGG	M00087
Fatty acid metabolism	KEGG	hsa01212
Fatty acid metabolism	KEGG	ko01212
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Mitochondrial Fatty Acid Beta-Oxidation	REACTOME	R-HSA-77289
mitochondrial fatty acid beta-oxidation of saturated fatty acids	REACTOME	R-HSA-77286
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA	REACTOME	R-HSA-77310
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA	REACTOME	R-HSA-77346
Beta oxidation of octanoyl-CoA to hexanoyl-CoA	REACTOME	R-HSA-77348
Beta oxidation of hexanoyl-CoA to butanoyl-CoA	REACTOME	R-HSA-77350
Beta oxidation of butanoyl-CoA to acetyl-CoA	REACTOME	R-HSA-77352

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36239258	2022	Abnormal expression of HADH, an enzyme of fatty acid oxidation, affects tumor development and prognosis (Review).	6
36239258	2022	Abnormal expression of HADH, an enzyme of fatty acid oxidation, affects tumor development and prognosis (Review).	6
32876354	2021	Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.	1
33881965	2021	Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.	9
34736508	2021	Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.	1
32876354	2021	Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.	1
33881965	2021	Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.	9
34736508	2021	Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.	1
26361074	2016	Skeletal muscle fiber characteristics and oxidative capacity in hemiparetic stroke survivors.	12
27181376	2016	Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.	1
26361074	2016	Skeletal muscle fiber characteristics and oxidative capacity in hemiparetic stroke survivors.	12
27181376	2016	Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.	1
26268944	2015	Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.	4
26316438	2015	A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.	9
26268944	2015	Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.	4

Citation

Dessen P

HADH (hydroxyacyl-CoA dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64159