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
14693719	2004	Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.	42
23273570	2013	Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.	22
21252247	2011	Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.	21
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
22583614	2012	Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.	12
20931292	2010	Congenital hyperinsulinism due to mutations in HNF4A and HADH.	9
20332099	2010	A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.	8
9185222	1997	Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.	7
11451959	2001	Glutamate 170 of human l-3-hydroxyacyl-CoA dehydrogenase is required for proper orientation of the catalytic histidine and structural integrity of the enzyme.	7
19318379	2009	Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene.	7

Citation

Dessen P

HADH (hydroxyacyl-CoA dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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