Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3033
Gene name Gene Name - the full gene name approved by the HGNC.
Hydroxyacyl-CoA dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HADH
Synonyms (NCBI Gene) Gene synonyms aliases
HAD, HADH1, HADHSC, HCDH, HHF4, MSCHAD, SCHAD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HHF4
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q25
Summary Summary of gene provided in NCBI Entrez 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 activit
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61735992 T>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, non coding transcript variant
rs76476980 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs137853102 C>A,T Pathogenic Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs137853103 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs140413151 C>A,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004893 hsa-miR-124-3p Microarray 15685193
MIRT004893 hsa-miR-124-3p Microarray 15685193
MIRT004893 hsa-miR-124-3p Microarray 18668037
MIRT023932 hsa-miR-1-3p Proteomics 18668040
MIRT023932 hsa-miR-1-3p Proteomics;Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003857 Function 3-hydroxyacyl-CoA dehydrogenase activity IDA 11489939
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA
GO:0005739 Component Mitochondrion IDA
GO:0005759 Component Mitochondrial matrix TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601609 4799 ENSG00000138796
Protein
UniProt ID Q16836
Protein name Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial (HCDH) (EC 1.1.1.35) (Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase) (Short-chain 3-hydroxyacyl-CoA dehydrogenase)
Protein function Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) (PubMed:10231530, PubMed:11489939, PubMed:16725361). Plays a role in the co
PDB 1F0Y , 1F12 , 1F14 , 1F17 , 1IL0 , 1LSJ , 1LSO , 1M75 , 1M76 , 2HDH , 3HAD , 3RQS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02737 3HCDH_N 29 214 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain Domain
PF00725 3HCDH 216 313 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas, heart and skeletal muscle. {ECO:0000269|PubMed:8687463}.
Sequence
Sequence length 314
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fatty acid elongation
Fatty acid degradation
Valine, leucine and isoleucine degradation
Lysine degradation
Tryptophan metabolism
Butanoate metabolism
Metabolic pathways
Fatty acid metabolism
  Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
Beta oxidation of octanoyl-CoA to hexanoyl-CoA
Beta oxidation of hexanoyl-CoA to butanoyl-CoA
Beta oxidation of butanoyl-CoA to acetyl-CoA
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
3-hydroxyacyl-coa dehydrogenase deficiency 3-Hydroxyacyl-CoA Dehydrogenase Deficiency rs375717077, rs1398546361 22579592, 21990309, 27181376, 23430856, 11489939, 23273570, 15870679
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Hyperinsulinemic hypoglycemia Congenital Hyperinsulinism, Hyperinsulinemic hypoglycemia, Hyperinsulinemic Hypoglycemia, Familial, 4 rs137853103, rs2126234459, rs104894237, rs267607196, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852671, rs137852672, rs72559723, rs193922400, rs137852676, rs193922402
View all (71 more)
11489939, 27181376
Hyperinsulinism Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209
View all (23 more)
Associations from Text Mining
Disease Name Relationship Type References
3 Hydroxyacyl CoA Dehydrogenase Deficiency Associate 19417036
Carcinoma Renal Cell Associate 30793530, 37460577
Carcinoma Renal Cell Inhibit 34391866
Colorectal Neoplasms Associate 29453334
Congenital Hyperinsulinism Associate 19417036, 21252247, 23275527, 26316438, 26758964, 27771675, 34927408
Hyperinsulinism Associate 20923481, 23273570, 29493090
Hypoglycemia Associate 20923481
Hypoglycemia leucine induced Associate 22583614
Inflammation Associate 34391866
Laryngeal Neoplasms Associate 28582492