From: Plasma membrane integrity: implications for health and disease
Impact | Protein | Disease | Refs |
---|---|---|---|
Lung | |||
    Resistance, repair | CAV1, MG53 | Idiopathic pulmonary fibrosis | |
Gastrointestinal tract | |||
    Resistance, repair | CAPN8, CAPN9 | Gastropathies | [242] |
    Repair | ANXA4 | Gastric cancer | [243] |
ATG16L1 | Inflammatory bowel disease | [13] | |
GPX4 | Inflammatory bowel disease | [19] | |
Skin | |||
    Resistance | FLG | Atopic dermatitis | [221] |
Vasculature | |||
    Repair | VWF | Von Willebrand disease | [225] |
ANXA2 | Behcet’s disease | [244] | |
Liver | |||
    Resistance | MDR3 | Familial intrahepatic cholestasis | [228] |
Kidney | |||
    Repair | MG53 | Acute kidney injury | [245] |
Muscle | |||
    Resistance | DMD | Duchenne’s muscular dystrophy | [246] |
DAG1 | Dystroglycanopathy | [247] | |
    Repair | DYSF | Limb-girdle muscular dystrophy type 2B | [125] |
CAV3 | Limb-girdle muscular dystrophy type 1C | [196] | |
ANO5 | Limb-girdle muscular dystrophy type 2 L | [173] | |
PTRF | Lipodystrophy | [248] | |
MICU1 | Neuromuscular disorder | [174] | |
ANXA6 | Limb-girdle muscular dystrophy type 2C | [249] | |
ASM | Niemann-Pick type A/B | [235] | |
CAPN-1, −2, −3 | Calpainopathies | ||
MCOLN1 | Mucolipidosis type IV | [112] | |
SYT7 | Autoimmune myositis | [251] | |
HRK | Myositis | [252] | |
Heart | |||
    Repair | DYSF | Limb-girdle muscular dystrophy type 2B | [238] |
MG53 | Valvular heart disease | [253] |