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MGP000931

Record overview

MGPD IDMGP000931
Gene ID1962
SpeciesHomo sapiens (Human)
Gene Nameenoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Gene Symbol EHHADH
SynonymsLBP; ECHD; LBFP; PBFE; FRTS3; L-PBE;
Alternate namesperoxisomal bifunctional enzyme; 3,2-trans-enoyl-CoA isomerase; L-3-hydroxyacyl-CoA dehydrogenase; L-bifunctional protein, peroxisomal; PBE; enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase; peroxisomal enoyl-CoA hydratase;
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:
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:
MAFGGGLELALGCHYRIAHAEAQVGLPEVTLGLLPGARGTQLLPRLTGVPAALDLITSGRRILADEALKLGILDKVVNSDPVEEAIRFAQRVSDQPLESR
RLCNKPIQSLPNMDSIFSEALLKMRRQHPGCLAQEACVRAVQAAVQYPYEVGIKKEEELFLYLLQSGQARALQYAFFAERKANKWSTPSGASWKTASARP
VSSVGVVGLGTMGRGIVISFARARIPVIAVDSDKNQLATANKMITSVLEKEASKMQQSGHPWSGPKPRLTSSVKELGGVDLVIEAVFEEMSLKKQVFAEL
SAVCKPEAFLCTNTSALDVDEIASSTDRPHLVIGTHFFSPAHVMKLLEVIPSQYSSPTTIATVMNLSKKIKKIGVVVGNCFGFVGNRMLNPYYNQAYFLL
EEGSKPEEVDQVLEEFGFKMGPFRVSDLAGLDVGWKSRKGQGLTGPTLLPGTPARKRGNRRYCPIPDVLCELGRFGQKTGKGWYQYDKPLGRIHKPDPWL
SKFLSRYRKTHHIEPRTISQDEILERCLYSLINEAFRILGEGIAASPEHIDVVYLHGYGWPRHKGGPMFYASTVGLPTVLEKLQKYYRQNPDIPQLEPSD
YLKKLASQGNPPLKEWQSLAGSPSSKL
 
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