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FLASH GENE

Symbol

CLCN7

contributors: mct - updated : 20-06-2019

HGNC name	chloride channel 7
HGNC id	2025

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

OPTB4 , OPTA2 , CADDLS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         in lysosomal storage disease and neurodegeneration constitutional     --over   expression of both CLCN7 and OSTM1 is increased in activated microglia, which can account for the increased delivery of CLCN7 to lysosomes constitutional       loss of function reduces bone and dentin mineral density but does not affect enamel mineralization

Susceptibility

to variability of bone mineral density (BMD)in postmenopausal women

Variant & Polymorphism other	significant association of CLCN7 polymorphisms with the variance of BMD and bone resorption marker levels in postmenopausal women

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Clcn7- mice developping severe osteopetrosis
	mice lacking Clc-7 show altered lysosomal function that leads to severe lysosomal storage