This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia.
应用类型
IHC,WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 210-320 of human ANKH (NP_473368.1).