rs375243154

This variant is located in the DCXR gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
3 submitters2 publications

Essential pentosuria; Hepatocellular carcinoma; Colon adenocarcinoma

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About DCXR

The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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