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FLASH GENE

Symbol

MCOLN1

contributors: mct/pgu - updated : 23-12-2017

HGNC name	mucolipin 1
HGNC id	13356

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ML4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function results in intracellular chelatable zinc dyshomeostasis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	TRPML1 K.O mice show inclusion bodies, enlarged vacuoles, psychomotor defect, retinal degeneration, death at age approximately 8 months
	neonatal enterocytes of mice lacking both mucolipins (Trpml3-/-;Trpml1-/-) vacuolated pathologically within hours of birth and remained so until weaning