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FLASH GENE

Symbol

PPP3R1

contributors: mct/ - updated : 14-03-2015

HGNC name	protein phosphatase 3, regulatory subunit B, alpha
HGNC id	9317

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       loss of function inhibition of Cnb1 in osteoblasts increases bone mass by directly increasing osteoblast differentiation and indirectly decreasing osteoclastogenesis

Susceptibility

to excessive left ventricular growth

Variant & Polymorphism other	deletion may cause excessive left ventricular growth beyond the level appropriate for cardiac workload when exposed to severe hypertension

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	calcineurin B mutant mice
	mice deleting the CnB gene lose nearly all Cn activity and show poor tolerance to cardiac stress