MSMO1
methylsterol monooxygenase 1
Summary
Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3775317 | 4:166,254,174 | C/G | — | benign |
| rs3775318 | 4:166,254,353 | G/C | — | benign |
| rs146748626 | 4:166,254,535 | G/C | — | likely benign |
| rs1390648360 | 4:166,254,537 | A/T | — | uncertain significance |
| rs1024578593 | 4:166,254,553 | A/C | — | uncertain significance |
| rs372044266 | 4:166,254,560 | C/T | — | uncertain significance |
| rs746880997 | 4:166,254,666 | G/T | — | uncertain significance |
| rs372745269 | 4:166,254,678 | G/C | — | uncertain significance |
| rs772795286 | 4:166,254,690 | A/G | — | uncertain significance |
| rs774882572 | 4:166,254,701 | C/G | — | uncertain significance |
| rs1172820720 | 4:166,254,717 | C/A | — | uncertain significance |
| rs1550271 | 4:166,254,953 | C/A | — | benign |
| rs2118496 | 4:166,254,973 | G/A | — | benign |
| rs17046216 | 4:166,255,704 | T/A | intron variant | — |
| rs72701627 | 4:166,258,905 | G/A | — | benign |
| rs369538193 | 4:166,258,937 | G/A | — | likely benign |
| rs373668989 | 4:166,258,967 | A/G | — | likely benign |
| rs375770332 | 4:166,258,969 | G/C | — | uncertain significance |
| rs141811636 | 4:166,258,981 | A/G | — | likely benign |
| rs765463805 | 4:166,258,988 | T/C | — | likely benign |
| rs369845281 | 4:166,258,991 | C/T | — | likely benign |
| rs1304406584 | 4:166,259,000 | C/A | — | uncertain significance |
| rs755943539 | 4:166,259,037 | T/C | — | uncertain significance |
| rs34499452 | 4:166,259,056 | A/G | — | benign |
| rs148185089 | 4:166,259,057 | T/C | — | likely benign |
| rs188890480 | 4:166,259,061 | C/G | — | benign |
| rs12501541 | 4:166,259,161 | C/T | — | benign |
| rs13152221 | 4:166,259,481 | T/C | — | benign |
| rs4353858 | 4:166,259,507 | T/C | — | benign |
| rs17046253 | 4:166,259,643 | C/T | — | benign |
| rs17046259 | 4:166,259,719 | T/G | — | benign |
| rs750050291 | 4:166,259,784 | A/G | — | likely benign |
| rs1238754239 | 4:166,259,789 | A/G | — | likely benign |
| rs375675952 | 4:166,259,795 | A/G | — | likely benign |
| rs1747628562 | 4:166,259,810 | T/A | — | uncertain significance |
| rs2126626501 | 4:166,259,842 | T/C | — | uncertain significance |
| rs1430053295 | 4:166,259,848 | A/T | — | uncertain significance |
| rs1268665050 | 4:166,259,857 | A/C | — | uncertain significance |
| rs869025576 | 4:166,259,918 | T/A | missense variant | pathogenic |
| rs112787177 | 4:166,259,945 | T/C | — | likely benign |
| rs6536905 | 4:166,261,244 | T/C | — | benign |
| rs778187610 | 4:166,261,357 | T/C | — | likely benign |
| rs2477920929 | 4:166,261,362 | G/C | — | likely benign |
| rs377232490 | 4:166,261,373 | G/A | — | uncertain significance |
| rs1553968081 | 4:166,261,377 | C/T | — | uncertain significance |
| rs2477921371 | 4:166,261,428 | G/C | — | uncertain significance |
| rs200613659 | 4:166,261,443 | T/C | — | uncertain significance |
| rs142496142 | 4:166,261,451 | G/A | — | likely benign |
| rs2477921689 | 4:166,261,500 | G/A | — | uncertain significance |
| rs7679322 | 4:166,261,589 | A/G | — | benign |
| rs7679808 | 4:166,261,609 | G/T | — | benign |
| rs1550270 | 4:166,261,800 | C/T | — | benign |
| rs72701629 | 4:166,262,741 | C/A | — | benign |
| rs72701630 | 4:166,262,864 | G/A | — | benign |
| rs2477926061 | 4:166,262,891 | T/C | — | likely benign |
| rs184068460 | 4:166,262,923 | A/G | — | uncertain significance |
| rs760048191 | 4:166,262,947 | A/G | missense variant | pathogenic |
| rs869025577 | 4:166,262,952 | G/C | missense variant | pathogenic |
| rs139920569 | 4:166,263,034 | G/A | — | uncertain significance |
| rs2477926507 | 4:166,263,037 | C/T | — | uncertain significance |
| rs17585739 | 4:166,263,047 | G/A | — | benign |
| rs1059209 | 4:166,263,213 | A/G | — | benign |
| rs1059210 | 4:166,263,340 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.