LMPD Database

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LMP002229

Record overview

LMPD IDLMP002229
Gene ID1962
SpeciesHomo sapiens (Human)
Gene Nameenoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Gene SymbolEHHADH
SynonymsECHD; FRTS3; L-PBE; LBFP; LBP; PBFE
Alternate namesperoxisomal bifunctional enzyme; PBE; 3,2-trans-enoyl-CoA isomerase; peroxisomal enoyl-CoA hydratase; L-3-hydroxyacyl-CoA dehydrogenase; L-bifunctional protein, peroxisomal; enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
Chromosome3
Map Location3q26.3-q28
EC Number4.2.1.17
SummaryThe protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
OrthologsView orthologs and multiple alignments for EHHADH

Proteins

peroxisomal bifunctional enzyme isoform 1
Refseq ID:NP_001957
Protein GI:68989263
UniProt ID:Q08426
mRNA ID:NM_001966
Length:723
RefSeq Status:REVIEWED
MAEYTRLHNALALIRLRNPPVNAISTTLLRDIKEGLQKAVIDHTIKAIVICGAEGKFSAGADIRGFSAPRTFGLTLGHVVDEIQRNEKPVVAAIQGMAFG
GGLELALGCHYRIAHAEAQVGLPEVTLGLLPGARGTQLLPRLTGVPAALDLITSGRRILADEALKLGILDKVVNSDPVEEAIRFAQRVSDQPLESRRLCN
KPIQSLPNMDSIFSEALLKMRRQHPGCLAQEACVRAVQAAVQYPYEVGIKKEEELFLYLLQSGQARALQYAFFAERKANKWSTPSGASWKTASARPVSSV
GVVGLGTMGRGIVISFARARIPVIAVDSDKNQLATANKMITSVLEKEASKMQQSGHPWSGPKPRLTSSVKELGGVDLVIEAVFEEMSLKKQVFAELSAVC
KPEAFLCTNTSALDVDEIASSTDRPHLVIGTHFFSPAHVMKLLEVIPSQYSSPTTIATVMNLSKKIKKIGVVVGNCFGFVGNRMLNPYYNQAYFLLEEGS
KPEEVDQVLEEFGFKMGPFRVSDLAGLDVGWKSRKGQGLTGPTLLPGTPARKRGNRRYCPIPDVLCELGRFGQKTGKGWYQYDKPLGRIHKPDPWLSKFL
SRYRKTHHIEPRTISQDEILERCLYSLINEAFRILGEGIAASPEHIDVVYLHGYGWPRHKGGPMFYASTVGLPTVLEKLQKYYRQNPDIPQLEPSDYLKK
LASQGNPPLKEWQSLAGSPSSKL
 
peroxisomal bifunctional enzyme isoform 2
Refseq ID:NP_001159887
Protein GI:261878539
UniProt ID:Q08426
mRNA ID:NM_001166415
Length:627
RefSeq Status:REVIEWED
MAFGGGLELALGCHYRIAHAEAQVGLPEVTLGLLPGARGTQLLPRLTGVPAALDLITSGRRILADEALKLGILDKVVNSDPVEEAIRFAQRVSDQPLESR
RLCNKPIQSLPNMDSIFSEALLKMRRQHPGCLAQEACVRAVQAAVQYPYEVGIKKEEELFLYLLQSGQARALQYAFFAERKANKWSTPSGASWKTASARP
VSSVGVVGLGTMGRGIVISFARARIPVIAVDSDKNQLATANKMITSVLEKEASKMQQSGHPWSGPKPRLTSSVKELGGVDLVIEAVFEEMSLKKQVFAEL
SAVCKPEAFLCTNTSALDVDEIASSTDRPHLVIGTHFFSPAHVMKLLEVIPSQYSSPTTIATVMNLSKKIKKIGVVVGNCFGFVGNRMLNPYYNQAYFLL
EEGSKPEEVDQVLEEFGFKMGPFRVSDLAGLDVGWKSRKGQGLTGPTLLPGTPARKRGNRRYCPIPDVLCELGRFGQKTGKGWYQYDKPLGRIHKPDPWL
SKFLSRYRKTHHIEPRTISQDEILERCLYSLINEAFRILGEGIAASPEHIDVVYLHGYGWPRHKGGPMFYASTVGLPTVLEKLQKYYRQNPDIPQLEPSD
YLKKLASQGNPPLKEWQSLAGSPSSKL