ATP2A3

Chr 17

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3

Also known as: SERCA3

NCBI Gene: 489 ENSG00000074370 UniProt: Q93084 OMIM: 601929

This gene encodes a SERCA calcium-ATPase that transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen, contributing to calcium sequestration during muscular excitation and contraction. Mutations cause cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome) and X-linked dystonia-parkinsonism, both following X-linked inheritance patterns. The gene is highly intolerant to loss-of-function mutations, and the associated disorders primarily affect the nervous system with movement abnormalities and sensory deficits.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.66

LOEUF

Multiple*

Mechanism· predicted