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FLASH GENE

Symbol

FHL1

contributors: mct/npt/pgu - updated : 04-03-2015

HGNC name	four and a half LIM domains 1
HGNC id	3702

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

XMPMA , SPM1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   particularly in the pulmonary vasculature, in lungs from patients with idiopathic pulmonary arterial hypertension constitutional     --low   in hypertrophic cardiomyopathy and failing hearts constitutional     --over   in hypertrophic cardiomyopathy (HCM) constitutional     --over   in smooth muscle in Hirschsprung disease (HSCR) might be associated with intestinal wall remodeling in HSCR and might be one of the risk factors for gastrointestinal motor dysfunction

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy   FHL1-NFATC1-UTRN signaling axis that can functionally compensate for dystrophin and treat DMD

ANIMAL & CELL MODELS

W122S mutant mice did not manifest cytoplasmic inclusions (reducing bodies) in muscle, and loss of function is responsible for the late-onset mild myopathy in the Fhl1 W122S knock-in mice