CLSTN1

Chr 1

calsyntenin 1

Also known as: ALC-ALPHA, CDHR12, CST-1, CSTN1, XB31alpha, alcalpha1, alcalpha2

NCBI Gene: 22883 ENSG00000171603 UniProt: O94985

The encoded protein functions as a postsynaptic adhesion molecule that binds to presynaptic neurexins to mediate synapse formation and also serves as a molecular adapter promoting axonal anterograde transport of vesicles. Mutations in this gene cause autosomal dominant developmental and epileptic encephalopathy with onset in infancy or early childhood. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

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)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

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Mechanism

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