CYP2W1

Chr 7

cytochrome P450 family 2 subfamily W member 1

NCBI Gene: 54905 ENSG00000073067 UniProt: Q8TAV3

The protein is a cytochrome P450 monooxygenase that hydroxylates all-trans-retinoic acid to regulate retinoid clearance and metabolizes various lysophospholipids involved in cellular signaling. Mutations cause autosomal recessive retinitis pigmentosa, a progressive inherited retinal dystrophy that typically begins in childhood with night blindness and peripheral vision loss. The gene shows moderate tolerance to loss-of-function variants (LOEUF 1.099), suggesting some mutational flexibility.

ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.10

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)