This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypogly... See more...

Aliases for HADH Gene

Aliases for HADH Gene

  • Hydroxyacyl-CoA Dehydrogenase 2 3 5
  • SCHAD 2 3 4
  • Medium And Short-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase 3 4
  • L-3-Hydroxyacyl-Coenzyme A Dehydrogenase, Short Chain 2 3
  • Hydroxyacyl-Coenzyme A Dehydrogenase, Mitochondrial 3 4
  • Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase 3 4
  • EC 1.1.1.35 4 51
  • HADHSC 3 4
  • HADH1 2 3
  • HCDH 3 4
  • HAD 3 4
  • Testis Secretory Sperm-Binding Protein Li 203a 3
  • Hydroxyacyl-Coenzyme A Dehydrogenase 2
  • EC 1.1.1 51
  • MSCHAD 3
  • HHF4 3
  • HADH 5

External Ids for HADH Gene

Previous HGNC Symbols for HADH Gene

  • HADHSC

Previous GeneCards Identifiers for HADH Gene

  • GC07U990046
  • GC04P109130
  • GC04P108910
  • GC04P104642

Summaries for HADH Gene

Entrez Gene Summary for HADH Gene

  • This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]

GeneCards Summary for HADH Gene

HADH (Hydroxyacyl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with HADH include Hyperinsulinemic Hypoglycemia, Familial, 4 and 3-Hydroxyacyl-Coa Dehydrogenase Deficiency. Among its related pathways are Lysine degradation and Tryptophan metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is HADHA.

UniProtKB/Swiss-Prot Summary for HADH Gene

  • Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.

Gene Wiki entry for HADH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HADH Gene

Genomics for HADH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HADH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J107987 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 612.5 +0.8 780 5 SP1 HNRNPL CREB1 REST ZNF629 NFKBIZ ZNF692 POLR2A BACH1 LARP7 HADH CYP2U1-AS1 LOC107986298 piR-30791-072 piR-50391-009 LEF1
GH04J108018 Enhancer 1 Ensembl ENCODE dbSUPER 18.4 +29.4 29376 1 CTCF JUND FOXA1 REST RAD21 TRIM22 RUNX3 SMC3 ARNT BHLHE40 HADH CYP2U1-AS1 piR-30791-073 LEF1 LEF1-AS1
GH04J108029 Enhancer 1 Ensembl ENCODE dbSUPER 16.9 +40.5 40511 2.8 CTCF REST RAD21 TRIM22 CEBPA RELA RFX1 CEBPB ZNF157 ZSCAN5C HADH CYP2U1-AS1 RPL34 RPL34-DT piR-30791-073 LEF1 LEF1-AS1
GH04J108035 Enhancer 0.7 ENCODE dbSUPER 21.9 +46.9 46905 2 PKNOX1 RUNX3 TCF12 BATF ATF4 SRF ZNF121 POLR2A CREM HADH piR-30791-073 LEF1 LEF1-AS1
GH04J108043 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 +55.1 55099 3.6 IKZF1 JUND DPF2 EP300 RAD21 EZH2 NCOR1 FOSL1 NFIC STAT5A HADH piR-30791-073 LEF1 LEF1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HADH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HADH

Top Transcription factor binding sites by QIAGEN in the HADH gene promoter:
  • c-Myb
  • C/EBPalpha
  • p300
  • SREBP-1a
  • SREBP-1b
  • YY1

Genomic Locations for HADH Gene

Genomic Locations for HADH Gene
chr4:107,989,714-108,035,175
(GRCh38/hg38)
Size:
45,462 bases
Orientation:
Plus strand
chr4:108,910,870-108,956,331
(GRCh37/hg19)
Size:
45,462 bases
Orientation:
Plus strand

Genomic View for HADH Gene

Genes around HADH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HADH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HADH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HADH Gene

Proteins for HADH Gene

  • Protein details for HADH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16836-HCDH_HUMAN
    Recommended name:
    Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
    Protein Accession:
    Q16836
    Secondary Accessions:
    • J3KQ17
    • O00324
    • O00397
    • O00753
    • Q4W5B4

    Protein attributes for HADH Gene

    Size:
    314 amino acids
    Molecular mass:
    34294 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for HADH Gene

    Alternative splice isoforms for HADH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HADH Gene

Selected DME Specific Peptides for HADH Gene

Q16836:
  • HFFNPVP
  • PVMKLVEV
  • CKDTPGFIVNRLLVPY
  • DLVVEAIVEN
  • AMKLGAGYPMGPFEL
  • ANATTRQDRFAGLHFFNPVP
  • ASNTSSL

Post-translational modifications for HADH Gene

  • Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).
  • Ubiquitination at Lys202
  • Modification sites at PhosphoSitePlus

Domains & Families for HADH Gene

Gene Families for HADH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for HADH Gene

InterPro:
Blocks:
  • 3-hydroxyacyl-CoA dehydrogenase
  • 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain
ProtoNet:

Suggested Antigen Peptide Sequences for HADH Gene

GenScript: Design optimal peptide antigens:
  • Short-chain 3-hydroxyacyl-CoA dehydrogenase (HCDH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16836

UniProtKB/Swiss-Prot:

HCDH_HUMAN :
  • Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
Family:
  • Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with HADH: view

Function for HADH Gene

Molecular function for HADH Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (3S)-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:22432, ChEBI:CHEBI:15378, ChEBI:CHEBI:57318, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:90726; EC=1.1.1.35;.

Enzyme Numbers (IUBMB) for HADH Gene

Phenotypes From GWAS Catalog for HADH Gene

Gene Ontology (GO) - Molecular Function for HADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0070403 NAD+ binding IEA --
genes like me logo Genes that share ontologies with HADH: view
genes like me logo Genes that share phenotypes with HADH: view

Human Phenotype Ontology for HADH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HADH Gene

MGI Knock Outs for HADH:
  • Hadh Hadh<tm1Csta>

Animal Model Products

  • Taconic Biosciences Mouse Models for HADH

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HADH

No data available for Transcription Factor Targets and HOMER Transcription for HADH Gene

Localization for HADH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HADH Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HADH gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with HADH: view

Pathways & Interactions for HADH Gene

genes like me logo Genes that share pathways with HADH: view

UniProtKB/Swiss-Prot Q16836-HCDH_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for HADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0009725 response to hormone IEA --
GO:0014823 response to activity IEA --
genes like me logo Genes that share ontologies with HADH: view

No data available for SIGNOR curated interactions for HADH Gene

Drugs & Compounds for HADH Gene

(15) Drugs for HADH Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Omega-3-carboxylic acids Approved, Investigational Pharma Target, potentiator 0
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 0
Stiripentol Approved Pharma An LDH inhibitor 11

(29) Additional Compounds for HADH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(3S)-3-Hydroxyadipyl-CoA
  • (3S)-3-Hydroxyadipyl-coenzyme A
(S)-3-Hydroxydodecanoyl-CoA
  • (S)-3-Hydroxydodecanoyl-coenzyme A
  • (S)-3-Hydroxylauroyl-CoA
  • (S)-3-Hydroxylauroyl-coenzyme A
72059-49-5
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-Hydroxyhexadecanoyl-coenzyme A
  • (S)-3-Hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-coenzyme A
  • beta-Hydroxypalmitoyl-CoA
35106-50-4
(S)-3-Hydroxyisobutyric acid
  • (S)-3-Hydroxy-2-methylpropanoic acid
  • (S)-3-Hydroxy-2-methylpropionic acid
  • (S)-3-Hydroxy-2-methylpropanoate
  • (S)-3-Hydroxyisobutyrate
  • (S)-3-Hydroxy-2-methylpropionate
2068-83-9
(S)-3-Hydroxytetradecanoyl-CoA
  • (S)-3-Hydroxytetradecanoyl-coa.
  • (S)-3-Hydroxytetradecanoyl-coenzyme A.

(7) ApexBio Compounds for HADH Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Stiripentol An LDH inhibitor 49763-96-4
Trilostane 13647-35-3
genes like me logo Genes that share compounds with HADH: view

Drug Products

Transcripts for HADH Gene

mRNA/cDNA for HADH Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HADH

Alternative Splicing Database (ASD) splice patterns (SP) for HADH Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4: - -
SP5:
SP6: -

Relevant External Links for HADH Gene

GeneLoc Exon Structure for
HADH

Expression for HADH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HADH Gene

mRNA differential expression in normal tissues according to GTEx for HADH Gene

This gene is overexpressed in Heart - Left Ventricle (x4.4).

Protein differential expression in normal tissues from HIPED for HADH Gene

This gene is overexpressed in Liver, secretome (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HADH Gene



Protein tissue co-expression partners for HADH Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HADH

SOURCE GeneReport for Unigene cluster for HADH Gene:

Hs.438289

mRNA Expression by UniProt/SwissProt for HADH Gene:

Q16836-HCDH_HUMAN
Tissue specificity: Expressed in liver, kidney, pancreas, heart and skeletal muscle.

Evidence on tissue expression from TISSUES for HADH Gene

  • Muscle(4.7)
  • Liver(4.6)
  • Lung(4.4)
  • Heart(4.3)
  • Nervous system(4.1)
  • Intestine(3.5)
  • Pancreas(3.5)
  • Kidney(3.1)
  • Blood(2.9)
  • Skin(2.6)
  • Spleen(2.3)
  • Stomach(2.2)
  • Bone marrow(2.2)
  • Lymph node(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HADH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • adrenal gland
  • kidney
  • liver
  • pancreas
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with HADH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HADH Gene

Orthologs for HADH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HADH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HADH 30 31
  • 99.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HADH 30 31
  • 88.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HADH 30 31
  • 87.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hadh 30
  • 85.56 (n)
Mouse
(Mus musculus)
Mammalia Hadh 30 17 31
  • 84.93 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HADH 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HADH 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HADH 30 31
  • 75.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HADH 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hadh 30
  • 75.23 (n)
Str.7598 30
African clawed frog
(Xenopus laevis)
Amphibia hadhsc-prov 30
Zebrafish
(Danio rerio)
Actinopterygii hadh 30 31
  • 69.36 (n)
OneToOne
wufb66a11 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8646 30
Worm
(Caenorhabditis elegans)
Secernentea B0272.3 30 31
  • 56.6 (n)
OneToMany
F54C8.1 31
  • 47 (a)
OneToMany
hacd-1 31
  • 44 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G15290 30
  • 48.04 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0796400 30
  • 49.64 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2628 31
  • 62 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU09553 30
  • 52.81 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1772 30
Species where no ortholog for HADH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HADH Gene

ENSEMBL:
Gene Tree for HADH (if available)
TreeFam:
Gene Tree for HADH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HADH: view image

Paralogs for HADH Gene

Paralogs for HADH Gene

Pseudogenes.org Pseudogenes for HADH Gene

genes like me logo Genes that share paralogs with HADH: view

Variants for HADH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HADH Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
640701 Uncertain Significance: Deficiency of 3-hydroxyacyl-CoA dehydrogenase 108,014,435(+) G/A MISSENSE_VARIANT
647412 Uncertain Significance: Deficiency of 3-hydroxyacyl-CoA dehydrogenase 108,034,320(+) G/T MISSENSE_VARIANT
652881 Uncertain Significance: Hyperinsulinemic hypoglycemia, familial, 4; Deficiency of 3-hydroxyacyl-CoA dehydrogenase 108,014,518(+) G/C MISSENSE_VARIANT
659541 Uncertain Significance: Deficiency of 3-hydroxyacyl-CoA dehydrogenase 107,990,032(+) G/C MISSENSE_VARIANT
704870 Likely Benign: Deficiency of 3-hydroxyacyl-CoA dehydrogenase 107,990,031(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HADH Gene

Structural Variations from Database of Genomic Variants (DGV) for HADH Gene

Variant ID Type Subtype PubMed ID
esv2759272 CNV loss 17122850
nsv1003893 CNV gain 25217958

Variation tolerance for HADH Gene

Residual Variation Intolerance Score: 69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HADH Gene

Human Gene Mutation Database (HGMD)
HADH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HADH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HADH Gene

Disorders for HADH Gene

MalaCards: The human disease database

(28) MalaCards diseases for HADH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperinsulinemic hypoglycemia, familial, 4
  • persistent hyperinsulinemic hypoglycemia of infancy
3-hydroxyacyl-coa dehydrogenase deficiency
  • hadh deficiency
hyperinsulinemic hypoglycemia
  • nesidioblastosis
hypoglycemia
  • hypoglycaemia
hyperinsulinism
  • hyperinsulinemia
- elite association - COSMIC cancer census association via MalaCards
Search HADH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HCDH_HUMAN
  • 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]: An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. {ECO:0000269 Ref.13}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. {ECO:0000269 PubMed:11489939}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HADH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HADH: view

No data available for Genatlas for HADH Gene

Publications for HADH Gene

  1. 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. (PMID: 16176262) Yang SY … Schulz H (The FEBS journal 2005) 2 3 4 23
  2. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. (PMID: 11489939) Clayton PT … van den Berg IE (The Journal of clinical investigation 2001) 3 4 23
  3. Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism. (PMID: 10231530) Barycki JJ … Banaszak LJ (Biochemistry 1999) 3 4 23
  4. Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. (PMID: 8687463) Vredendaal PJ … Berger R (Biochemical and biophysical research communications 1996) 3 4 23
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for HADH Gene

  • Signalway ELISA kits for HADH
  • Signalway Proteins for HADH

Sources for HADH Gene