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CYP11A1

cytochrome P450 family 11 subfamily A member 1

HCNC Approved Symbol
CYP11A1 (HGNC:2590)
Genomic Coordinates
15:74,337,762 - 74,367,646 (15q24.1)
Synonyms
P450SCC, CYP11A
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the CYP11A1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Glutaric aciduria
 1 (100.0%)
Hypoglycemia
 1 (100.0%)
Ketotic hypoglycemia
 1 (100.0%)
Lactic acidosis
 1 (100.0%)
CYP11A1 - Gene browser | 3billion