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FLASH GENE

Symbol

MCOLN3

contributors: mct/pgu - updated : 24-03-2016

HGNC name	mucolipin 3
HGNC id	13358

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   causes severe alterations in the endosomal pathway, including enlargement and clustering of endosomes, delayed epidermal growth factor receptor degradation, and impaired autophagosome maturation

Susceptibility

Variant & Polymorphism

Candidate gene	for hereditary and/or sporadic forms of neurosensory disorders
Marker
Therapy target

ANIMAL & CELL MODELS

	mutations in the Trpml3 (Mcoln3) gene cause the varitint-waddler mouse phenotypes, exhibiting a spectrum of disease phenotypes from diluted coat color to auditory and vestibular problems
	neonatal enterocytes of mice lacking both mucolipins (Trpml3-/-;Trpml1-/-) vacuolated pathologically within hours of birth and remained so until weaning