MLIP Chromosome 6
Muscular LMNA interacting protein
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What This Gene Does
Predicted to enable lamin binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of cardiac muscle hypertrophy in response to stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to be located in PML body; nuclear envelope; and sarcolemma. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (7)
Inborn genetic diseases
MLIP-related disorder
Myopathy with myalgia
increased serum creatine kinase
and with or without episodic rhabdomyolysis
Intellectual developmental disorder
autosomal dominant 64
Key Variants
RS200350443
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2481953475
Likely pathogenic
MLIP-related disorder, MLIP-related disorder
Health Risk
RS777377431
Likely pathogenic
Health Risk
RS1293901426
Pathogenic
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Health Risk
RS1353661531
Pathogenic
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Health Risk
RS2481647144
Pathogenic
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Health Risk
RS2481741286
Pathogenic
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Health Risk
RS2481742586
Pathogenic
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Health Risk
RS2481953351
Pathogenic
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Health Risk
RS539057828
Pathogenic
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Health Risk
RS901032025
Pathogenic
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200350443 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2481953475 | Health Risk | Likely pathogenic | MLIP-related disorder, MLIP-related disorder |
| RS777377431 | Health Risk | Likely pathogenic | — |
| RS1293901426 | Health Risk | Pathogenic | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |
| RS1353661531 | Health Risk | Pathogenic | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |
| RS2481647144 | Health Risk | Pathogenic | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |
| RS2481741286 | Health Risk | Pathogenic | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |
| RS2481742586 | Health Risk | Pathogenic | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |
| RS2481953351 | Health Risk | Pathogenic | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |
| RS539057828 | Health Risk | Pathogenic | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |
| RS901032025 | Health Risk | Pathogenic | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |