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FLASH GENE
Symbol CALM1 contributors: mct/npt/shn - updated : 25-10-2017
HGNC name calmodulin 1 (phosphorylase kinase, delta)
HGNC id 1442
ASSOCIATED DISORDERS
corresponding disease(s) CPVT4 , LQT14
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
age-downregulated in the frontal cortex
constitutional     --over  
induces cardiac hypertrophy by a calcineurin-dependent pathway
Susceptibility to hip osteoarthritis(OA)
Variant & Polymorphism SNP 293C>T associated with hip osteoarthritis
Candidate gene
Marker
Therapy target
  • CALM1-mediated signaling pathway in chondrocytes as a novel potential target for treatment of OA
  • biology of CALM1-CFLAR binding may provide new therapeutic targets for cholangiocarcinoma and possibly other cancers
  • ANIMAL & CELL MODELS