LSDDB

Mucolipidosis Ⅳ

This disease is caused due to the defect in a transient poteintial channel protein called mulcolipin-1. This follows an autosomal pattern of inheritance. The gene encoding the transient protein is MCOLN1 gene located at 19p13.2-13.3. Mutations in this gene cause impaired calcium and heavy metal regulations thereby instigating a multifaceted cellular damage involving neurons and brain (Boudewyn and Walkley, 2019).

Reference :
Boudewyn, L. C. and Walkley, S. U. (2019) ‘Current concepts in the neuropathogenesis of mucolipidosis type IV’, Journal of Neurochemistry, 148(5), pp. 669–689. doi: 10.1111/jnc.14462.