CADPS

Chr 3

calcium dependent secretion activator

Also known as: CADPS1, CAPS, CAPS1, UNC-31

NCBI Gene: 8618 ENSG00000163618 UniProt: Q9ULU8 OMIM: 604667

The protein functions as a calcium-binding protein that regulates the exocytosis of neurotransmitter-filled vesicles at synapses, acting downstream of ATP-dependent priming to mediate vesicle fusion with cell membranes. Mutations cause autosomal recessive intellectual disability, autism spectrum disorder, and seizures, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants (LOEUF 0.435), indicating that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008]

OMIM 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

0.43

LOEUF

Multiple*

Mechanism· predicted