Ww Domain Containing Oxidoreductase (WWOX) Human Recombinant Protein

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]

WWOX: an enzyme which contains 2 WW domains and a short-chain dehydrogenase/reductase domain (SRD). Expressed at high levels in hormonally regulated tissues such as testis, ovary, and prostate. Its SRD domain suggest a role for this gene in steroid metabolism. Shown to be an essential mediator of tumor necrosis factor-alpha-induced apoptosis in the mouse. May play a similar role in the human. May function as a suppressor of tumor growth. Alternative splicing of this gene generates 7 isoforms.

Protein type: Oxidoreductase; Tumor suppressor; Apoptosis; EC 1.1.1.-

Chromosomal Location of Human Ortholog: 16q23

Cellular Component: Golgi apparatus; microvillus; mitochondrion; cytoplasm; plasma membrane; cytosol; nucleus

Molecular Function: protein dimerization activity; protein binding; enzyme binding; oxidoreductase activity; cofactor binding; coenzyme binding

Biological Process: steroid metabolic process; osteoblast differentiation; negative regulation of Wnt receptor signaling pathway; Wnt receptor signaling pathway; skeletal morphogenesis; positive regulation of transcription from RNA polymerase II promoter

Disease: Epileptic Encephalopathy, Early Infantile, 28