CAST Chromosome 5

Calpastatin
15 variants 15 Health Risk

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What This Gene Does
The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
Associated Conditions (3)
Inborn genetic diseases
CAST-related disorder
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Key Variants
All Variants (15)
RSID Category Clinical Significance Conditions
RS113315765 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CAST-related disorder, Inborn genetic diseases
RS139285603 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142144208 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142513839 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143382715 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149270486 Health Risk Conflicting classifications of pathogenicity
RS200085642 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1399161903 Health Risk Likely pathogenic CAST-related disorder, CAST-related disorder
RS1765909899 Health Risk Likely pathogenic CAST-related disorder, CAST-related disorder
RS1761614594 Health Risk Pathogenic
RS2532855985 Health Risk Pathogenic
RS754516576 Health Risk Pathogenic
RS786204842 Health Risk Pathogenic Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome, Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
RS786205140 Health Risk Pathogenic Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome, Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
RS786205141 Health Risk Pathogenic Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome, Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
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