rs201888607

This variant is located in the AKR7A2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About AKR7A2

The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

View all AKR7A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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