This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]
Function:
Defects in ACP5 are the cause of spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]. 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. Note=ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease.
Subcellular Location:
Lysosome.
Similarity:
Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.
SWISS:
P13686
Gene ID:
54
Database links:
Entrez Gene: 54 Human
Omim: 171128 Human
SwissProt: P13686 Human
Unigene: 1211 Human
|
|
