|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|
|Is this an essential gene?||Possibly non essential (E-score: 0.309)|
|Stock #||R5889 (G1)|
|Chromosomal Location||50128201-50196269 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 50177209 bp|
|Amino Acid Change||Leucine to Glutamine at position 513 (L513Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025385 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025385]|
|Predicted Effect||probably damaging
AA Change: L513Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L513Q
|Meta Mutation Damage Score||0.0204|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
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'- CTTCAGGGAATTGCAGGTAATCTTG -3'
(R):5'- CCAGAGCCATATAGCGTTTTCTG -3'
(F):5'- GTTTTAATCGGTAGCTGGC -3'
(R):5'- GAGCCATATAGCGTTTTCTGAATAC -3'