HADH
entrez
3033
canonical
uniprot
Q16836
canonical
ensembl
ENSG00000138796
resolver
ensp
ENSP00000312288
resolver
ensp
ENSP00000474560
resolver
ensp
ENSP00000486771
resolver
enst
ENST00000626637
resolver
genesymbol
HADH
resolver
genesymbol_syn
HAD
resolver
genesymbol_syn
HAD1
resolver
genesymbol_syn
HADHSC
resolver
genesymbol_syn
SCHAD
resolver
hgnc
HGNC:4799
resolver
uniprot
A0A0D9SFP2
resolver
uniprot
A0A140VK76
resolver
uniprot
B3KTT6
resolver
uniprot
J3KQ17
resolver
uniprot
O00324
resolver
uniprot
O00397
resolver
uniprot
O00753
resolver
uniprot
Q4W5B4
resolver
uniprot_entry
A0A0D9SFP2_HUMAN
resolver
uniprot_entry
A0A140VK76_HUMAN
resolver
uniprot_entry
B3KTT6_HUMAN
resolver
uniprot_entry
HCDH_HUMAN
resolver
uniprot_sec
J3KQ17
resolver
uniprot_sec
O00324
resolver
uniprot_sec
O00397
resolver
uniprot_sec
O00753
resolver
uniprot_sec
Q4W5B4
resolver
amino_acid_sequence
MAFVTRQFMRSVSSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGIEESLRKVAKKKFAENLKAGDEFVEKTLSTIATSTDAASVVHSTDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDFSKALGKHPVSCKDTPGFIVNRLLVPYLMEAIRLYERGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNKLVAENKFGKKTGEGFYKYK
uniprot
proteins
disease_involvement
DISEASE: 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.14}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hyperinsulinemic hypoglycemia, familial, 4 (HHF4) [MIM:609975]: A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF4 clinical features include hypoglycemic coma, intellectual disability due to repeated episodes of hypoglycemia, and seizures. HHF4 inheritance is autosomal recessive. {ECO:0000269|PubMed:11489939}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.35
uniprot
proteins
function
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 control of insulin secretion by inhibiting the activation of glutamate dehydrogenase 1 (GLUD1), an enzyme that has an important role in regulating amino acid-induced insulin secretion (By similarity). Plays a role in the maintenance of normal spermatogenesis through the reduction of fatty acid accumulation in the testes (By similarity). {ECO:0000250|UniProtKB:Q61425, ECO:0000269|PubMed:10231530, ECO:0000269|PubMed:11489939, ECO:0000269|PubMed:16725361}.
uniprot
proteins
mass_dalton
34294
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid beta-oxidation. {ECO:0000269|PubMed:11489939, ECO:0000269|PubMed:16725361}.
uniprot
proteins
post_translational_modification
PTM: Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5. {ECO:0000250|UniProtKB:Q61425}.
uniprot
proteins
protein_family
3-hydroxyacyl-CoA dehydrogenase family
uniprot
proteins
pubmed
10231530
uniprot
proteins
pubmed
10840044
uniprot
proteins
pubmed
11489939
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16176262
uniprot
proteins
pubmed
16725361
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29192674
uniprot
proteins
pubmed
8687463
uniprot
proteins
sequence_length
314
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:8687463}.
uniprot
proteins