| Tag | Content |
|---|---|
| Uniprot ID | P56937; Q5T246; Q7Z4V9; Q8WWS2; Q9UF00; |
| Entrez ID | 51478 |
| Genbank protein ID | AAF09266.2; CAC20418.1; AAF14537.1; AAP35738.1; AAH07068.1; EAW90716.1; AAQ89321.1; AAH65246.1; CAC88111.1; AAP97275.1; BAF83430.1; |
| Genbank nucleotide ID | NM_001304513.1; NM_016371.3; NM_001304512.1; |
| Ensembl protein ID | ENSP00000254521 |
| Ensembl nucleotide ID | ENSG00000132196 |
| Gene name | 3-keto-steroid reductase |
| Gene symbol | HSD17B7 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Responsible for the reduction of the keto group on the C-3 of sterols. |
| Sequence | MRKVVLITGA SSGIGLALCK RLLAEDDELH LCLACRNMSK AEAVCAALLA SHPTAEVTIV 60 QVDVSNLQSV FRASKELKQR FQRLDCIYLN AGIMPNPQLN IKALFFGLFS RKVIHMFSTA 120 EGLLTQGDKI TADGLQEVFE TNVFGHFILI RELEPLLCHS DNPSQLIWTS SRSARKSNFS 180 LEDFQHSKGK EPYSSSKYAT DLLSVALNRN FNQQGLYSNV ACPGTALTNL TYGILPPFIW 240 TLLMPAILLL RFFANAFTLT PYNGTEALVW LFHQKPESLN PLIKYLSATT GFGRNYIMTQ 300 KMDLDEDTAE KFYQKLLELE KHIRVTIQKT DNQARLSGSC L 341 |
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.