Full name: ANKH inorganic pyrophosphate transport regulator

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ANK; CCAL2; CMDJ; CPPDD; HANK; MANK; SLC62A1

Summary: 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. [provided by RefSeq, Jul 2008]

Expression: Ubiquitous expression in prostate (RPKM 21.9), brain (RPKM 17.0) and 25 other tissues

Gene size: 166979bp

Exon count: 14