ACP5: Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias. Defects in ACP5 are the cause of spondyloenchondrodysplasia with immune dysregulation (SPENCDI). A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease. Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.
Protein type: Cofactor and Vitamin Metabolism - riboflavin; Phosphatase; EC 3.1.3.2; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 19p13.2
Cellular Component: lysosome; integral to membrane; cytosol
Molecular Function: acid phosphatase activity; ferric iron binding; ferrous iron binding
Biological Process: negative regulation of interleukin-12 production; vitamin metabolic process; negative regulation of nitric oxide biosynthetic process; response to lipopolysaccharide; negative regulation of interleukin-1 beta production; negative regulation of superoxide release; negative regulation of tumor necrosis factor production; riboflavin metabolic process; defense response to Gram-positive bacterium; dephosphorylation; negative regulation of inflammatory response; response to cytokine stimulus; water-soluble vitamin metabolic process; bone resorption
Disease: Spondyloenchondrodysplasia With Immune Dysregulation
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