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FLASH GENE

Symbol

CALM1

contributors: mct/npt/shn - updated : 25-10-2018

HGNC name	calmodulin 1 (phosphorylase kinase, delta)
HGNC id	1442

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CPVT4 , LQT14

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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