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FLASH GENE
Symbol MCOLN1 contributors: mct/pgu - updated : 23-12-2013
HGNC name mucolipin 1
HGNC id 13356
ASSOCIATED DISORDERS
corresponding disease(s) ML4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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