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FLASH GENE

Symbol

ATP2B3

contributors: mct - updated : 15-11-2016

HGNC name	ATPase, Ca++ transporting, plasma membrane 3
HGNC id	816

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCAX1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in Aldosterone-producing adenomas (APAs) constitutional germinal mutation       associated with mutations in LAMA1 in a patient with global developmental delay, generalized hypotonia and cerebellar ataxia constitutional somatic mutation       in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

Susceptibility

to adrenal aldosterone-producing adenomas (APAs)

Variant & Polymorphism other	APA-associated ATP2B3(Leu425_Val426del) mutation appeared to have a reduced capacity to export Ca(2+) suggesting a loss of the physiological pump function

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS