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FLASH GENE

Symbol

CCNF

contributors: mct - updated : 13-07-2017

HGNC name	cyclin F
HGNC id	1591

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   after DNA damage, CCNF is downregulated in an ATR-dependent manner to allow accumulation of RRM2

Susceptibility

to amyotrophic lateral sclerosis and frontotemporal dementia

Variant & Polymorphism other	expression of mutant CCNF in neuronal cells caused abnormal ubiquitination and accumulation of ubiquitinated proteins leading to ALS and FTD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	CycF(-/-) animals, with a myriad of developmental anomalies due in large part to failures in yolk sac and chorioallantoic placentation, die around embryonic day 10.5