SCAMP5

Chr 15

secretory carrier membrane protein 5

NCBI Gene: 192683 ENSG00000198794 UniProt: Q8TAC9

The SCAMP5 protein is required for calcium-dependent exocytosis of cytokines and cooperates with SNARE machinery in vesicle-mediated transport at the Golgi apparatus, plasma membrane, and recycling endosomes. Mutations cause autosomal recessive neurodevelopmental disorder with epilepsy, characterized by developmental delay, intellectual disability, and seizures typically beginning in infancy or early childhood. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.523), suggesting sensitivity to reduced protein levels.

ResearchSummary from RefSeq, UniProt

Involved in positive regulation of cytokine production; regulation of vesicle-mediated transport; and response to endoplasmic reticulum stress. Located in Golgi apparatus; plasma membrane; and recycling endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]

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

—

P/LP missense

0.52

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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