ANKH
MIM.605145 5p15.2-p14.1
ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. It is a multiple-pass transmembrane protein that regulates pyrophosphate levels inside and outside tissue culture cells in vitro.
Pathology
Mutations in the progressive ankylosis gene (Ank/ANKH) cause surprisingly different skeletal phenotypes in mice and humans.
In humans, some dominant mutations cause chondrocalcinosis, an adult-onset disease characterized by the deposition of ectopic joint crystals.
Other dominant mutations cause craniometaphyseal dysplasia, a childhood disease characterized by sclerosis of the skull and abnormal modeling of the long bones, with little or no joint pathology.
mutations in the familial autosomal dominant calcium pyrophosphate dihydrate chondrocalcinosis (#12297989#, #12297987#)
Animal model
Mutation at the mouse ’progressive ankylosis’ (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction.
In mice, recessive loss-of-function mutations cause arthritis, ectopic crystal formation, and joint fusion throughout the body.
References
Gurley KA, Reimer RJ, Kingsley DM. Biochemical and genetic analysis of ANK in arthritis and bone disease. Am J Hum Genet. 2006 Dec;79(6):1017-29. PMID: #17186460#