Tartrate-resistant acid phosphatase type 5
Function
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.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry. ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease.
Sequence Similarities
Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.
Cellular localization
- Lysosome
Alternative names
Tartrate-resistant acid phosphatase type 5, TR-AP, Tartrate-resistant acid ATPase, Type 5 acid phosphatase, TrATPase, ACP5