|Institutional Source||Beutler Lab|
|Gene Name||enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase|
|Synonyms||MFP, L-PBE, MFP1, L-bifunctional enzyme, 1300002P22Rik, HD|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5307 (G1)|
|Chromosomal Location||21761287-21787807 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 21762692 bp|
|Amino Acid Change||Serine to Alanine at position 517 (S517A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023559 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023559]|
|Predicted Effect||probably benign
AA Change: S517A
PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: S517A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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]
PHENOTYPE: Mice homozygous for disruption of this gene display a normal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ehhadh||
(F):5'- GACCCAGTGGCTTGTCATAC -3'
(R):5'- CTACCATCGCCACAGTCATG -3'
(F):5'- CAGTGGCTTGTCATACTGATACCAG -3'
(R):5'- CAGTCATGAGCTTATCCAAAAGG -3'