Gene MCOLN1
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Also known as
mucolipin 1, TRPML1, ML4, mucolipidosis type IV geneOverview
MCOLN1 (Mucolipin 1) encodes a cation channel protein localized to lysosomes and late endosomes. This channel, also known as TRPML1, regulates lysosomal calcium release, membrane trafficking, and autophagy. MCOLN1 is essential for proper lysosomal function and cellular clearance of damaged organelles and waste materials.Mutations in MCOLN1 cause mucolipidosis type IV (MLIV), a lysosomal storage disorder characterized by severe neurological deterioration, visual impairment, and developmental delay. The disease is particularly prevalent in individuals of Ashkenazi Jewish descent, where carrier frequency is approximately 1 in 100. Milder variants may affect lysosomal efficiency without causing overt disease.
Understanding your MCOLN1 genetic status provides insights into lysosomal function and cellular quality control. This information is particularly relevant for carrier screening in individuals of Ashkenazi Jewish ancestry and understanding overall lysosomal health.