Neuronal Ceroid Lipofuscinosis 6
Body function: Muscle & Neurological
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Neuronal ceroid lipofuscinosis Type 6 (NCL-6) is a lysosomal storage disease that impacts Australian Shepherds. It is linked to a mutation in the CLN6 gene. This gene is involved in protein transport within cells, specifically helping proteins reach the lysosomes where they are processed. When CLN6 is mutated, it disrupts this process, leading to the accumulation of waste products, which results in severe neurological issues.
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