CALB1

Chr 8

calbindin 1

Also known as: CALB, D-28K

NCBI Gene: 793 ENSG00000104327 UniProt: P05937

The protein buffers cytosolic calcium in neurons and may stimulate membrane Ca²⁺-ATPase and cyclic nucleotide phosphodiesterase. Mutations cause autosomal recessive spinocerebellar ataxia with early onset cerebellar dysfunction. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.51), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]

ResearchGenerating clinical summary…

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)

—

P/LP submissions

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P/LP missense

0.51

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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