HSD3B7 (Gene)

Synonyms:CBAS1, ENTREZ:80270, HGNC:18324, HSD3B7, MIM:607764, NM_001142777, NM_001142778, NM_025193, NP_001136249, NP_001136250, NP_079469, PFIC4, SDR11E3, XM_005255601, XM_011545960, XM_011545961, XM_011545962, XM_017023732, XP_005255658, XP_011544262, XP_011544263, XP_011544264, XP_016879221, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Omim:OMIM:607764
Id:ENSG00000099377
Hgnc:HGNC:18324
Entrez:80270
Description:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
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. [provided by RefSeq, Dec 2008]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View HSD3B7's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with HSD3B7.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using HSD3B7.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for HSD3B7.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with HSD3B7.

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