LMPD Database

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LMP002407

Record overview

LMPD IDLMP002407
Gene ID3033
SpeciesHomo sapiens (Human)
Gene Namehydroxyacyl-CoA dehydrogenase
Gene SymbolHADH
SynonymsHAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD; SCHAD
Alternate nameshydroxyacyl-coenzyme A dehydrogenase, mitochondrial; short-chain 3-hydroxyacyl-CoA dehydrogenase; L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain; medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase
Chromosome4
Map Location4q22-q26
EC Number1.1.1.35
SummaryThis 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]
OrthologsView orthologs and multiple alignments for HADH

Proteins

hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor
Refseq ID:NP_001171634
Protein GI:296179427
UniProt ID:Q16836
mRNA ID:NM_001184705
Length:331
RefSeq Status:REVIEWED
MAFVTRQFMRSVSSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGIEESLRKVAKKKFAENPKAGDEFVEKTLSTI
ATSTDAASVVHSTDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDF
SKALGKHPVSCKDTPGFIVNRLLVPYLMEAIRLYERDFQTCGDSNSGLGFSLKGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAE
NPLHQPSPSLNKLVAENKFGKKTGEGFYKYK
 
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor
Refseq ID:NP_005318
Protein GI:296179429
UniProt ID:Q16836
mRNA ID:NM_005327
Length:314
RefSeq Status:REVIEWED
MAFVTRQFMRSVSSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGIEESLRKVAKKKFAENPKAGDEFVEKTLSTI
ATSTDAASVVHSTDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDF
SKALGKHPVSCKDTPGFIVNRLLVPYLMEAIRLYERGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNKLVAEN
KFGKKTGEGFYKYK
 
transit_peptide: 1..12
calculated_mol_wt: 1473
peptide sequence: 
MAFVTRQFMRSV

mat_peptide: 13..331
product: hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1
calculated_mol_wt: 34581
peptide sequence: 
SSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGIEESLRKVAKKKFAENPKAGDEFVEKTLSTIATSTDAASVVHS
TDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDFSKALGKHPVSCK
DTPGFIVNRLLVPYLMEAIRLYERDFQTCGDSNSGLGFSLKGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNK
LVAENKFGKKTGEGFYKYK

transit_peptide: 1..12
calculated_mol_wt: 1473
peptide sequence: 
MAFVTRQFMRSV

mat_peptide: 13..314
product: hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2
calculated_mol_wt: 32823
peptide sequence: 
SSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGIEESLRKVAKKKFAENPKAGDEFVEKTLSTIATSTDAASVVHS
TDLVVEAIVENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDFSKALGKHPVSCK
DTPGFIVNRLLVPYLMEAIRLYERGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNKLVAENKFGKKTGEGFYK
YK