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Ww Domain-containing Oxidoreductase OKDB#: 3837
 Symbols: WWOX Species: human
 Synonyms: FOR, WOX1, FRA16D, HHCMA56, PRO0128, D16S432E,FRAGILE SITE FRA16D OXIDOREDUCTASE, FOR|WOX1  Locus: 16q23.3-q24.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 2 WW domains and a short-chain dehydrogenase/reductase domain (SRD). The highest normal expression of this gene is detected in hormonally regulated tissues such as testis, ovary, and prostate. This expression pattern and the presence of an SRD domain suggest a role for this gene in steroid metabolism. The encoded protein is more than 90% identical to the mouse protein, which is an essential mediator of tumor necrosis factor-alpha-induced apoptosis, suggesting a similar, important role in apoptosis for the human protein. In addition, there is evidence that this gene behaves as a suppressor of tumor growth. Alternative splicing of this gene generates transcript variants that encode different isoforms. [provided by RefSeq]
General function Intracellular signaling cascade, Cell death/survival, Apoptosis
Comment
Cellular localization
Comment
Ovarian function Steroid metabolism
Comment
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 1 mutations

Species: mouse
Mutation name: None
type: null mutation
fertility: subfertile
Comment: Targeted ablation of the Wwox tumor suppressor leads to impaired steroidogenesis. Aqeilan RI et al. The WW domain-containing oxidoreductase (WWOX) gene encodes a 46kDa tumor suppressor. The Wwox protein contains two N-terminal WW domains that interact with several transcriptional activators containing proline-tyrosine motifs and a central short-chain dehydrogenase/reductase (SDR) domain that has been suggested to play a role in steroid metabolism. Recently, we have shown that targeted deletion of the Wwox gene in mice leads to postnatal lethality and defects in bone growth. Here, we report that Wwox deficient mice display impaired steroidogenesis. Mutant homozygous mice are born with gonadal abnormalities including failure of Leydig cells development in testis and reduced theca cells proliferation in ovary. Furthermore, Wwox(-/-) mice displayed impaired gene expression of key steroidogenesis enzymes. Affymetrix microarray gene analysis revealed differentially expressed related genes in steroidogenesis in knockout mice testis and ovary as compared to control mice. These results demonstrate the essential requirement for the Wwox tumor suppressor in proper steroidogenesis.

Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
KEGG Pathways
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created: Nov. 5, 2008, 1:48 p.m. by: hsueh   email:
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last update: Nov. 5, 2008, 1:51 p.m. by: hsueh    email:



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