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FLASH GENE

Symbol

WWOX

contributors: mct/npt/pgu - updated : 13-01-2013

HGNC name	WW domain containing oxidoreductase
HGNC id	12799

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE28 , SCAEMR

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in primary acute leukemia often in association with FHIT alterations tumoral     --over   in breast cancer tumoral   LOH     in ovarian cancer cells and different cell lines tumoral     --low   in non-invasive breast and gastric cancer tissues tumoral   deletion     in adenocarcinomas of colon, stomach, lung, ovary, prostate carcinoma tumoral   translocation     in multiple myeloma, translocation t(14;16) (q32;q23) tumoral     --low   in primary oral squamous cell carcinomas, and in prostate carcinoma tumoral   LOH     in multiple myeloma with poor prognosis tumoral     --low   is an important step that might increase the vulnerability to the carcinogenesis process in papillary thyroid carcinomas constitutional germinal mutation       associated with a 46,XY DSD

Susceptibility

to low plasma HDL cholesterol an to coronary artery disease to autism spectrum disorder (ASD)

Variant & Polymorphism other	variant associated to low plasma HDL cholesterol
	copy-number variants (CNVs) in WWOX contribute significantly to autism spectrum disorder (ASD) risk

Candidate gene	target for DNA instability at 16q23.2
	role in human gonad development
Marker
Therapy target	potential target for lung cancer prevention and therapy

ANIMAL & CELL MODELS

Wwox KO mouse models showing gonadal abnormalities