Official symbol | HSD3B7 |
Gene id | 80270 |
Organism | Homo sapiens |
Official full symbol | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
Gene type | protein-coding |
Also known as | CBAS1, PFIC4, SDR11E3 |
Summary | This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. |
Genomic regions | Chromosome 16 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
HSD3B7-201 | ENST00000262520.10 | 2200 | 196aa | Protein coding | CCDS45466 | Q9H2F3-2 | - | TSL:2, GENCODE basic, |
HSD3B7-202 | ENST00000297679.10 | 2171 | 369aa | Protein coding | CCDS10698 | Q9H2F3-1 | NM_025193.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
HSD3B7-203 | ENST00000562932.5 | 746 | 219aa | Protein coding | - | I3L2Q9 | - | CDS 3' incomplete, TSL:5, |
HSD3B7-204 | ENST00000574447.1 | 746 | 176aa | Protein coding | - | I3L2H6 | - | CDS 3' incomplete, TSL:3, |
Target Gene | HSD3B7 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene HSD3B7 had been KO in hela cell line. |
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Single gRNA lentivirus
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