SLMAP Chromosome 3
Sarcolemma associated protein
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What This Gene Does
This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
STRIPAK complex
Locus Type
gene with protein product
Location
3p14.3
Ensembl
ENSG00000163681
Associated Conditions (1)
Brugada syndrome
Key Variants
RS150439110
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
RS188700768
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
RS199881493
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
RS200859030
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
RS752276281
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
RS757740736
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
RS777858277
Conflicting classifications of pathogenicity
Brugada syndrome, Brugada syndrome
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150439110 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |
| RS188700768 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |
| RS199881493 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |
| RS200859030 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |
| RS752276281 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |
| RS757740736 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |
| RS777858277 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Brugada syndrome |