SCAMP5 Chromosome 15
Secretory carrier membrane protein 5
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What This Gene Does
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]
Gene Info
Gene Group
Secretory carrier membrane proteins
Locus Type
gene with protein product
Location
15q24.2
Ensembl
ENSG00000198794
Associated Conditions (6)
Inborn genetic diseases
SCAMP5-related neurodevelopmental disorder with autistic features and seizures
Macrocephaly-developmental delay syndrome
SCAMP5-related neurodevelopmental and movement disorder
SCAMP5-related disorder
Neurodevelopmental disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1184981709 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SCAMP5-related neurodevelopmental disorder with autistic features and seizures, Macrocephaly-developmental delay syndrome |