ATP2B3

Chr X

ATPase plasma membrane Ca2+ transporting 3

Also known as: CFAP39, CLA2, OPCA, PMCA3, PMCA3a, SCAX1

NCBI Gene: 492 ENSG00000067842 UniProt: Q16720

This gene encodes plasma membrane calcium ATPase isoform 3, which uses ATP to transport cytosolic calcium ions across the plasma membrane to maintain basal intracellular calcium levels at presynaptic terminals. Mutations cause X-linked spinocerebellar ataxia type 1 through an X-linked recessive inheritance pattern. The pathogenic mechanism appears to involve gain-of-function effects that disrupt normal calcium homeostasis at synapses.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia, X-linked 1

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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