|Institutional Source||Beutler Lab|
|Gene Name||hydroxysteroid (17-beta) dehydrogenase 4|
|Synonyms||D-bifunctional protein, MFP2, multifunctional protein 2, 17[b]-HSD, Mfp-2, perMFE-2, MFE-2|
|Essential gene?||Possibly essential (E-score: 0.522)|
|Stock #||R8264 (G1)|
|Chromosomal Location||50128201-50196269 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 50146526 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 191 (T191A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025385 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025385]|
AA Change: T191A
PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: T191A
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
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 that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities in fatty acid metabolism, retarded growth, abnormal bile salt composition, impaired coordination, demyelination and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hsd17b4||
(F):5'- CACAGGCAGAGATGATGCTG -3'
(R):5'- ACAGTGTGACAGACTCTAACAC -3'
(F):5'- GCAGAGATGATGCTGGTGTTG -3'
(R):5'- TGTGGCAGGCTCTAACACACTC -3'