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Rabbit Anti-TRAP 5 antibody
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:
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.
Subcellular Location:
Lysosome.
DISEASE:
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.
Similarity:
Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.
SWISS:
P13686
Gene ID:
171128
Database links:
Entrez Gene: 54 Human
Entrez Gene: 11433 Mouse
Entrez Gene: 25732 Rat
Omim: 171128 Human
SwissProt: P13686 Human
SwissProt: Q05117 Mouse
SwissProt: P29288 Rat
Unigene: 1211 Human
Unigene: 46354 Mouse
Unigene: 171928 Rat
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