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FLASH GENE

Symbol

WDR1

contributors: mct - updated : 20-11-2018

HGNC name	WD repeat domain 1
HGNC id	12754

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PFIT

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation     loss of function in respiratory tract infections, skin ulceration, and stomatitis, associated with aberrant T-cell activation and B-cell development constitutional     --low   may contribute to the platelet-mediated pathogenesis of cardiovascular disease

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	anti-WDR1 antibody could be a novel approach for serological screening of papillary thyroid carcinoma (PTC) and undifferentiated thyroid carcinoma (UTC), and could be an efficient and inexpensive biomarker
Therapy target

ANIMAL & CELL MODELS

	Wdr1-deficient mice have impaired hemostasis due to defective inside-out integrin signaling in platelets
	in adult mice, Wdr1 deletion resulted in similar but much milder phenotypes of heart hypertrophy, F-actin accumulations within myofibrils, and lethality