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How does the gene MCOLN1 affect my mucolipidoses?

Abnormalities in the gene MCOLN1 cause ML4, or type IV, mucolipidoses. MCOLN1 fails to produce or produces faulty proteins in cells. In turn, these proteins cannot help substances to exit the cells. Waste materials accumulate and cause damage to the affected organs. Doctors can identify problems with MCOLN1 during prenatal testing or when they are trying to diagnose someone with mucolipidoses-like symptoms.


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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.