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FLASH GENE

Symbol

S100A1

contributors: mct - updated : 10-02-2018

HGNC name	S100 calcium binding protein A1
HGNC id	10486

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed neuromuscular myopathy   therapeutic target for the treatment of both cardiac and skeletal myopathies cardiovascular cardiomyopathy   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