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FLASH GENE

Symbol

ATP2A1

contributors: mct - updated : 23-10-2017

HGNC name	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
HGNC id	811

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BROD

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy   novel therapeutic approach using ATP2A1 to abrogate the altered intracellular Ca(2+) levels that underlie most forms of Muscular dystrophies (MDs)

ANIMAL & CELL MODELS

	ATP2A1 null mice have progressive cyanosis and gasping respiration and succumb from respiratory failure shortly after birth
	a missense mutation in the ATP2A1 gene in congenital pseudomyotonia of Chianina cattle (the electromyographic examination does not show any alteration, not even during the phase of the muscle contraction) (Drögemüller 2008)