The ank gene story.
The underlying molecular defect resulting in the abnormal calcification observed in ank/ank mice has been identified. The responsible nonsense mutation affects the protein product of ank, resulting in diminished production of extracellular inorganic pyrophosphate, an important inhibitor of nucleation and of the growth of apatite crystals. The ank gene product is one of several cell membrane proteins, including ectonucleoside triphosphate pyrophosphohydrolase enzymes and alkaline phosphatase, that regulate extracellular inorganic pyrophosphate levels and thereby regulate mineralization.
Ryan
L M
LM
Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA. lryan@mcw.edu
D000818:Animals; D001168:Arthritis / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008817:Mice, Mutant Strains; D028061:Phosphate Transport Proteins
C498770:ANKH protein, human; D008565:Membrane Proteins; D028061:Phosphate Transport Proteins; C410982:ank protein, mouse