| Tag | Content |
|---|---|
| Uniprot ID | O76062; A8K4H0; O95982; Q8IY06; Q96E64; Q96GZ1; |
| Entrez ID | 7108 |
| Genbank protein ID | AAH38353.1; AAC21450.1; BAF83624.1; AAC21457.1; AAH12857.1; AAD09769.1; AAH09052.1; AAD09765.1; |
| Genbank nucleotide ID | NM_001277233.1; NM_003273.3; |
| Ensembl protein ID | ENSP00000279263; ENSP00000329520; |
| Ensembl nucleotide ID | ENSG00000149809 |
| Gene name | Delta(14)-sterol reductase TM7SF2 |
| Gene symbol | TM7SF2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis. |
| Sequence | MAPTQGPRAP LEFGGPLGAA ALLLLLPATM FHLLLAARSG PARLLGPPAS LPGLEVLWSP 60 RALLLWLAWL GLQAALYLLP ARKVAEGQEL KDKSRLRYPI NGFQALVLTA LLVGLGMSAG 120 LPLGALPEML LPLAFVATLT AFIFSLFLYM KAQVAPVSAL APGGNSGNPI YDFFLGRELN 180 PRICFFDFKY FCELRPGLIG WVLINLALLM KEAELRGSPS LAMWLVNGFQ LLYVGDALWH 240 EEAVLTTMDI THDGFGFMLA FGDMAWVPFT YSLQAQFLLH HPQPLGLPMA SVICLINATG 300 YYIFRGANSQ KNTFRKNPSD PRVAGLETIS TATGRKLLVS GWWGMVRHPN YLGDLIMALA 360 WSLPCGVSHL LPYFYLLYFT ALLVHREARD ERQCLQKYGL AWQEYCRRVP YRIMPYIY 418 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.