|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 27, subfamily a, polypeptide 1|
|Synonyms||cholesterol 27 hydroxylase, Cyp27, 1300013A03Rik|
|Essential gene?||Probably non essential (E-score: 0.121)|
|Stock #||R8259 (G1)|
|Chromosomal Location||74713574-74737892 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 74732055 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 133 (D133V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027356 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027356]|
AA Change: D133V
PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: D133V
|Coding Region Coverage||
|Validation Efficiency||100% (82/82)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null allele show hepato- and adrenomegaly, reduced bile acid synthesis, increased cholesterol 7alpha-hydroxylase activity and 7alpha-hydroxycholesterol levels, slightly higher 25-hydroxyvitamin D levels, and altered hepatic fatty acid, triacylglycerol, and adrenal cholesterol homeostasis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp27a1||
(F):5'- TGTCATCTCAACTGGACCCC -3'
(R):5'- AAGAGGCAGTGGCTGTTCTG -3'
(F):5'- GGACCCCAGTTATTCCACTTTGG -3'
(R):5'- GCCTCAACGTTTTCTAGACAAG -3'