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FLASH GENE
Symbol S100A1 contributors: mct - updated : 10-02-2016
HGNC name S100 calcium binding protein A1
HGNC id 10486
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in cardiomyopathies
constitutional        
results in pulmonary hypertension (PH), by disruption of its normal capacity to enhance pulmonary endothelial cell function
constitutional     --low  
in failing hearts
constitutional     --low  
suppresses physiological AP-induced Ca(2+) release flux, resulting in impaired contractile activation and force production in skeletal muscle
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • S100A1 and S100B expression are marker to develop potency assays for cartilage regeneration cell therapies
  • Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    therapeutic target for the treatment of both cardiac and skeletal myopathies
    cardiovascularcardiomyopathy 
    cardiovascular  
    ability of exogenously administered S100A1 makes it an attractive therapeutic target in the treatment of Pulmonary hypertension (PMID: 25395393)
    ANIMAL & CELL MODELS
  • ATP synthase activity is reduced in cardiomyocytes from S100a1 knockout mice
  • mice deficient of both the S100a1 and S100b genes displayed normal skeletal growth from embryonic stage to adulthood
  • S100a1-knock-out mice (KO) exhibited increased right ventricular (RV) weight/body weight ratio and elevated RV pressure in the absence of altered left ventricular filling pressures, accompanied by increase in wall thickness of muscularized pulmonary arteries and a reduction in microvascular perfusion