Mucolipidosis type IV
id:
mucolipidosis-type-iv-283-14319261
title:
Mucolipidosis type IV
text:
Mucolipidosis type IV is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel, mucolipin1. These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and wh
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Mucolipidosis_type_IV
date created:
date modified:
2023-10-27T15:03:50Z
main entity:
{"identifier":"Q931538","url":"https://www.wikidata.org/entity/Q931538"}
image:
fields total:
13
integrity:
14