XB-GENEPAGE-29093450
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cyp27a1.2
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cytochrome P450 family 27 subfamily A member 1 gene 2
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Nomenclature history )
AI Protein Function
:
cyp27a1.2 encodes a mitochondrial cytochrome P450 monooxygenase that catalyzes sterol 27‑hydroxylation, contributing to bile acid synthesis and vitamin D metabolism. It functions in cholesterol homeost...[+]
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Diseases:
Disease Ontology:
cerebrotendinous xanthomatosis
MIM:
CEREBROTENDINOUS XANTHOMATOSIS; CTX
External Links:
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