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MLIP

Chr 6p12.1

muscular LMNA interacting protein

Aliases:
MGC18257, CIP
MANE:
ENST00000502396.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Acute rhabdomyolysis

    BIALLELIC, autosomal or pseudoautosomal
  • Congenital myopathy

    BIALLELIC, autosomal or pseudoautosomal
  • Rhabdomyolysis and metabolic muscle disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Cardiac arrhythmias - additional genes

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1

    0.74
  • Abnormality of the skeletal system

    0.42
  • Abnormal urine sodium concentration

    0.41
  • heart failure

    0.38
  • systolic heart failure

    0.36
  • intellectual developmental disorder, autosomal dominant 64

    0.34
  • hypertrophic cardiomyopathy

    0.32
  • placental abruption

    0.29
  • response to selective serotonin reuptake inhibitor

    0.27
  • response to statin

    0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Muscular LMNA-interacting protein

Required for myoblast differentiation into myotubes, possibly acting as a transcriptional regulator of the myogenic program (By similarity). Required for cardiac adaptation to stress through integrated regulation of the AKT/mTOR pathways and FOXO1. Regulates cardiac homeostasis and plays a role in the protection against cardiac hypertrophy (By similarity). Binds chromatin (By similarity). May act as a transcriptional cofactor for ISL1, repressing its transcriptional activity (By similarity). May also repress MYOCD transcriptional activity (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.