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FLASH GENE
Symbol CASR contributors: mct - updated : 18-12-2015
HGNC name calcium-sensing receptor
HGNC id 1514
ASSOCIATED DISORDERS
corresponding disease(s) HHC1 , HPT2 , NSHPT , HYPOCA , HYPOCAB , EIG8
related resource CASR DB Calcium Sensing Receptor Locus Mutation Database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       gain of function
by elevated Ca2+(o) concentrations, such as those found near resorbing bone, produces an especially strong chemoattractant effect on bone metastatic breast cancer cells toward the Ca2+-rich environment
tumoral        
silenced by genetic and epigenetic mechanisms in unfavorable neuroblastomas
constitutional     --over  
in inflammatory states, such as that associated with obesity
Susceptibility to chronic pancreatitis
Variant & Polymorphism SNP higher in a healthy group with the S986S genotype
Candidate gene
  • is one of the candidate genes explaining individual predisposition to calcium nephrolithiasis
  • Marker
    Therapy target
    ANIMAL & CELL MODELS