CYP11A1 (Gene)

Organism:

Homo sapiens

Synonyms:CYP11A, CYP11A1, CYPXIA1, ENTREZ:1583, HGNC:2590, MIM:118485, NM_000781, NM_001099773, NP_000772, NP_001093243, P450SCC, cytochrome P450 family 11 subfamily A member 1

Id:ENSG00000288362

Description:cytochrome P450 family 11 subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:2590]

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View CYP11A1's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with CYP11A1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using CYP11A1.

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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 CYP11A1.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with CYP11A1.

Results found

Linked to

	Label	Description
	Hypospadias Phenotype (Entity type)	Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displa...
	Osteoporosis Phenotype (Entity type)	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural...
	Hypoglycemia Phenotype (Entity type)	A decreased concentration of glucose in the blood.

Hypospadias

Phenotype (Entity type)

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displa...

Osteoporosis

Phenotype (Entity type)

Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural...

Hypoglycemia

Phenotype (Entity type)

A decreased concentration of glucose in the blood.

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The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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