Reactome | ANKH transports PPi from cytosol to extracellular region

ANKH transports PPi from cytosol to extracellular region

Stable Identifier

R-HSA-5226964

Type

Reaction [transition]

Species

Homo sapiens

Compartment

cytosol, extracellular region, plasma membrane

ReviewStatus

5/5

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ANKH transports PPi from cytosol to extracellular region

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Progressive ankylosis protein homolog (ANKH) is a putative transmembrane pyrophosphate (PPi) transport channel protein found in osteoblasts of various bones. It mediates the transport of cytosolic PPi to the extracellular matrix. Abnormal transport of PPi is implicated in familial calcium pyrophosphate dihydrate deposition (CPPD) disease. There are two forms of CPPD disease: CCAL1 and CCAL2. Defects in ANKH can cause chondrocalcinosis (CCAL2; MIM:118600), a chronic condition in which PPi crystals deposit in the joint fluid, cartilage, and periarticular tissues and there is calcium deposition in articular cartilage (Pendleton et al. 2002, Williams et al. 2002, Williams et al. 2003). Defects in ANKH can also cause craniometaphyseal dysplasia, autosomal dominant (CMDD; MIM:123000), an osteochondrodysplasia characterised by progressive thickening and increased mineral density of craniofacial bones and abnormal modelling of metaphyses in long bones (Nurnberg et al. 2001, Reichenberger et al. 2001).

Literature References

PubMed ID	Title	Journal	Year
11326272	Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia Chandler, D, Mundlos, S, Harrop, K, Nürnberg, P, Westermann, F, Goldblatt, J, Ritter, H, Braun, HS, Laing, N, Borochowitz, ZU, Cunningham, ML, Mischung, C, Leschik, G, Tinschert, S, Kotzot, D, Uhlmann, K, Höhne, W, Thiele, H	Nat. Genet.	2001
13130483	Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease Williams, CJ, Doherty, M, McCarty, DJ, Peariso, S, Reginato, AJ, Pendleton, A, Ryan, LM, Bonavita, G, Hughes, AE	Arthritis Rheum.	2003
11326338	Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK Beighton, P, Grange, DK, Sommer, A, Sellars, S, Raposo do Amaral, CM, Hamersma, H, Ueki, Y, Ramesar, R, Park, L, Tiziani, V, Reichenberger, E, Santanna, C, Watanabe, S, Olsen, BR, Gorlin, RJ, Shiang, R, Lidral, AC, Mulliken, JB, Baur, ST, Gardner, J	Am. J. Hum. Genet.	2001
12297989	Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH Russell, RG, Williams, CJ, Cuthbertson, J, Timms, A, Brown, MA, Wordsworth, BP, Jones, Y, Broxholme, J, Bonavita, G, Caeiro, F, Zhang, Y, Carr, AJ, Marchegiani, R, Reginato, A	Am. J. Hum. Genet.	2002
12297987	Mutations in ANKH cause chondrocalcinosis Netter, P, Ho, AM, Hughes, A, Kingsley, DM, Dixey, J, Loeuille, D, Gurley, KA, Doherty, M, Johnson, MD, Williams, C, Wright, G, Shiang, R, Pendleton, A, McGrath, R, Reginato, A, Gillet, P	Am. J. Hum. Genet.	2002