[HTML][HTML] Mucolipin-3 regulates luminal calcium, acidification, and membrane fusion in the endosomal pathway
B Lelouvier, R Puertollano - Journal of biological chemistry, 2011 - ASBMB
Mucolipin-3 (MCOLN3) is a pH-regulated Ca 2+ channel that localizes to the endosomal
pathway. Gain-of-function mutation in MCOLN3 causes the varitint-waddler (Va) phenotype
in mice, which is characterized by hearing loss, vestibular dysfunction, and coat color
dilution. The Va phenotype results from a punctual mutation (A419P) in the pore region of
MCOLN3 that locks the channel in an open conformation causing massive entry of Ca 2+
inside cells and inducing cell death by apoptosis. Overexpression of wild-type MCOLN3 …
pathway. Gain-of-function mutation in MCOLN3 causes the varitint-waddler (Va) phenotype
in mice, which is characterized by hearing loss, vestibular dysfunction, and coat color
dilution. The Va phenotype results from a punctual mutation (A419P) in the pore region of
MCOLN3 that locks the channel in an open conformation causing massive entry of Ca 2+
inside cells and inducing cell death by apoptosis. Overexpression of wild-type MCOLN3 …