ACP6

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ACP6: A Protein Linked to Neurological Disorders

Description:

ACP6 (acid phosphatase-6) is a lysosomal enzyme that plays a crucial role in the degradation of phosphoproteins and other biological molecules. It is mainly found in the nervous system and associated with several neurological disorders.

Associated Diseases:

ACP6 deficiency is linked to a group of rare neurodegenerative diseases known as neuronal ceroid lipofuscinoses (NCLs). NCLs are characterized by the accumulation of storage material in neurons, leading to progressive neurological decline. The specific type of NCL associated with ACP6 deficiency is known as CLN8.

Did you Know ?

CLN8 is one of the most common forms of NCLs, accounting for approximately 5% of cases. The condition typically affects children between the ages of 2 and 10 and leads to a life expectancy of around 15 years.