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FLASH GENE
Symbol SLMAP contributors: mct/npt - updated : 14-02-2019
HGNC name sarcolemma associated protein
HGNC id 16643
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
associated with diabetes and endothelial dysfunction of macro- and micro-blood vessels
constitutional germinal mutation      
may cause Brugada syndrome via modulating the intracellular trafficking of SCNA5 channel
Susceptibility to diabetic retinopathy (DR) in type 2 diabetes (T2DM)
Variant & Polymorphism other
  • SLMAP rs17058639 C&
  • 8201;>&
    8201;T polymorphism was associated with the presence of diabetic retinopathy (DR) in type 2 diabetes (T2DM)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS