rs761638116

This variant is located in the WWOX gene.

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ClinVar annotation

Uncertain Significance★★★☆

4 submitters2 publications

Developmental and epileptic encephalopathy, 1;Autosomal recessive spinocerebellar ataxia 12; not provided; Autosomal recessive spinocerebellar ataxia 12;Malignant tumor of esophagus;Developmental and epileptic encephalopathy, 28; Inborn genetic diseases

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About WWOX

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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