|Institutional Source||Beutler Lab|
|Gene Name||hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7215 (G1)|
|Chromosomal Location||30118304-30155162 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 30119842 bp (GRCm38)|
|Amino Acid Change||Asparagine to Lysine at position 755 (N755K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000120976 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058045] [ENSMUST00000156859]|
AA Change: N755K
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: N755K
|Coding Region Coverage||
|Validation Efficiency||98% (79/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within 36 hours with hypoglycemia and liver steatosis. Liver steatosis and insulin resistance develop in heterozygotes with age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hadha||
(F):5'- CAGAAGGCACTCTGATGGAG -3'
(R):5'- ACATCGGAGCTGTCTTTGG -3'
(F):5'- CACTCTGATGGAGGAGCAAGCC -3'
(R):5'- CCCTTGTCTCGGAGGTCAGTG -3'