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	HGNC	UniGene	Nucleotide	OMIM	UCSC

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FLASH GENE

Symbol

ATP1A1

contributors: mct - updated : 21-02-2018

HGNC name	ATPase, Na+/K+ transporting, alpha 1 polypeptide
HGNC id	799

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DICMT2 , HOMGSMR2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in aldosterone-producing adenomas (APAs) tumoral     --over   is strongly associated with the presence and severity of ESCC (esophageal squamous cell carcinoma) constitutional somatic mutation       in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

Susceptibility

Variant & Polymorphism SNP	genetic variations are associated with bipolar disorders suggesting a role of the enzyme in the etiology of the disease (Goldstein 2009)

Candidate gene	for interacting hypertension susceptibility locus
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive liver targeting ATP1A1 is a novel approach to the treatment of hepatocellular carcinoma

ANIMAL & CELL MODELS

	Dahl salt-sensitive (S) rats bearing Dahl salt-resistant wildtype ATP1A1 cDNA exhibited less rat salt-sensitive hypertension, less hypersensitive renal disease, and longer life span compared with Dahl S controls
	hearts from heterozygous ATP1A1 mice (with a targeted disruption in the gene) are hyponcontractile