CAST Chromosome 5
Calpastatin
Upload your DNA to see your personal genotypes for variants in CAST.
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
RS113315765
Conflicting classifications of pathogenicity
Inborn genetic diseases, CAST-related disorder, Inborn genetic diseases
Health Risk
RS139285603
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142144208
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142513839
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143382715
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149270486
Conflicting classifications of pathogenicity
Health Risk
RS200085642
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1399161903
Likely pathogenic
CAST-related disorder, CAST-related disorder
Health Risk
RS1765909899
Likely pathogenic
CAST-related disorder, CAST-related disorder
Health Risk
RS1761614594
Pathogenic
Health Risk
RS2532855985
Pathogenic
Health Risk
RS754516576
Pathogenic
Health Risk
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 |