WWOX Chromosome 16
WW domain containing oxidoreductase
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What This Gene Does
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]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
16q23.1-q23.2
Ensembl
ENSG00000186153
Associated Conditions (23)
Developmental and epileptic encephalopathy
1
Autosomal recessive spinocerebellar ataxia 12
Inborn genetic diseases
28
Malignant tumor of esophagus
WWOX-related disorder
Familial cancer of breast
Clear cell carcinoma of kidney
Abnormality of the nervous system
Developmental delay
Early Infantile Epileptic Encephalopathy
Autosomal Recessive
Neurodevelopmental disorders
Neurodevelopmental delay
WWOX-related diosrder
Global developmental delay
Brain atrophy
Abnormal facial shape
Esophageal squamous cell carcinoma
+3 more conditions
Key Variants
RS1023419687
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12
Health Risk
RS112636835
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12
Health Risk
RS114755364
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1
Health Risk
RS11545029
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1
Health Risk
RS139253468
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1
Health Risk
RS140817689
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1
Health Risk
RS1484856529
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1
Health Risk
RS1567567249
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12
Health Risk
RS186745328
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12
Health Risk
RS193001955
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12
Health Risk
RS193027041
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1
Health Risk
RS199511589
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy, 1
Health Risk
All Variants (101)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886039653 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 1, Autosomal recessive spinocerebellar ataxia 12 |