ACP2

Acid phosphatase 2, lysosomal (ACP2) is an enzyme that in humans is encoded by the ACP2 gene located on chromosome 11. This enzyme is a member of the acid phosphatase family and plays a critical role in the lysosomal degradation pathway, which is essential for the recycling of cellular components. ACP2 functions by catalyzing the hydrolysis of phosphate monoesters under acidic conditions, a key step in the breakdown of biomolecules for recycling within the cell.

Function

ACP2 is localized in the lysosome, a specialized organelle containing a wide array of enzymes responsible for breaking down various biomolecules, including nucleic acids, proteins, and lipids. The enzyme's primary role is to remove phosphate groups from those biomolecules, a process known as dephosphorylation, under the acidic conditions found in lysosomes. This activity is crucial for the degradation and recycling of cellular components, which is essential for cell maintenance and remodeling.

Clinical Significance

Mutations in the ACP2 gene have been associated with a rare genetic disorder known as Lysosomal Acid Phosphatase Deficiency or LAP deficiency. This condition is characterized by a deficiency of the ACP2 enzyme, leading to an accumulation of undegraded materials in lysosomes. Patients with LAP deficiency may present with a range of symptoms, including growth retardation, muscle weakness, and neurological impairments. The severity of the condition can vary widely among affected individuals.

Genetic

The ACP2 gene is located on the long (q) arm of chromosome 11 at position 13.2, spanning approximately 20 kilobases (kb). It consists of multiple exons that encode the enzyme's amino acid sequence. Genetic studies have identified various mutations in the ACP2 gene that result in the production of a non-functional enzyme, leading to LAP deficiency.

See Also

• Lysosome
• Acid phosphatase
• Genetic disorder

References

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