KY Chromosome 3
Kyphoscoliosis peptidase
Upload your DNA to see your personal genotypes for variants in KY.
What This Gene Does
The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]
Associated Conditions (4)
KY-related disorder
Inborn genetic diseases
Myofibrillar myopathy 7
Hereditary spastic paraplegia
Key Variants
RS188233679
Conflicting classifications of pathogenicity
KY-related disorder, Inborn genetic diseases, KY-related disorder
Health Risk
RS191999465
Conflicting classifications of pathogenicity
Myofibrillar myopathy 7, Myofibrillar myopathy 7
Health Risk
RS199865600
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201201519
Conflicting classifications of pathogenicity
Inborn genetic diseases, KY-related disorder, Inborn genetic diseases
Health Risk
RS775215301
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2107735424
Likely pathogenic
Myofibrillar myopathy 7, Myofibrillar myopathy 7
Health Risk
RS2547432519
Likely pathogenic
Myofibrillar myopathy 7, Myofibrillar myopathy 7
Health Risk
RS1085307110
Pathogenic
Hereditary spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS373240849
Pathogenic
Myofibrillar myopathy 7, Myofibrillar myopathy 7
Health Risk
RS377332009
Pathogenic
Myofibrillar myopathy 7, Myofibrillar myopathy 7
Health Risk
RS762212832
Pathogenic
Myofibrillar myopathy 7, Myofibrillar myopathy 7
Health Risk
RS886037917
Pathogenic
Myofibrillar myopathy 7, Myofibrillar myopathy 7
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS188233679 | Health Risk | Conflicting classifications of pathogenicity | KY-related disorder, Inborn genetic diseases, KY-related disorder |
| RS191999465 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 7, Myofibrillar myopathy 7 |
| RS199865600 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201201519 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, KY-related disorder, Inborn genetic diseases |
| RS775215301 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2107735424 | Health Risk | Likely pathogenic | Myofibrillar myopathy 7, Myofibrillar myopathy 7 |
| RS2547432519 | Health Risk | Likely pathogenic | Myofibrillar myopathy 7, Myofibrillar myopathy 7 |
| RS1085307110 | Health Risk | Pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS373240849 | Health Risk | Pathogenic | Myofibrillar myopathy 7, Myofibrillar myopathy 7 |
| RS377332009 | Health Risk | Pathogenic | Myofibrillar myopathy 7, Myofibrillar myopathy 7 |
| RS762212832 | Health Risk | Pathogenic | Myofibrillar myopathy 7, Myofibrillar myopathy 7 |
| RS886037917 | Health Risk | Pathogenic | Myofibrillar myopathy 7, Myofibrillar myopathy 7 |