rs371739605

This variant is located in the NOX4 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About NOX4

This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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