ANKH inorganic pyrophosphate transport regulator
Last updated 18 Aug 2020
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The ANKH gene provides instructions for making a protein that is involved in skeletal development. The ANKH protein plays a role in the development and function of cells that build bones (osteoblasts) and cells that break down bone (osteoclasts). Osteoclasts are involved in bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. In addition, the ANKH protein transports a molecule called pyrophosphate out of cells to the intricate network of proteins that forms in the spaces between cells (extracellular matrix). This extracellular pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in tissues. The ANKH protein may have other, unknown functions.
Normal function
The ANKH gene provides instructions for making a protein that is involved in skeletal development. The ANKH protein plays a role in the development and function of cells that build bones (osteoblasts) and cells that break down bone (osteoclasts). Osteoclasts are involved in bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. In addition, the ANKH protein transports a molecule called pyrophosphate out of cells to the intricate network of proteins that forms in the spaces between cells (extracellular matrix). This extracellular pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in tissues. The ANKH protein may have other, unknown functions.
Conditions referring to this gene or chromosome
Other names
ANK
ANKH_HUMAN
ankylosis, progressive homolog (mouse)
FLJ27166
HANK
MANK
progressive ankylosis protein
SLC62A1
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Further reading and references
- ANKH inorganic pyrophosphate transport regulator; MedlinePlus, National Library of Medicine.
- Addison WN, Azari F, Sorensen ES, Kaartinen MT, McKee MD. Pyrophosphate inhibits mineralization of osteoblast cultures by binding to mineral, up-regulating osteopontin, and inhibiting alkaline phosphatase activity. J Biol Chem. 2007 May 25;282(21):15872-83. doi: 10.1074/jbc.M701116200. Epub 2007 Mar 23.
- Chen IP, Luxmi R, Kanaujiya J, Hao Z, Reichenberger EJ. Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts. Stem Cell Reports. 2017 Nov 14;9(5):1369-1376. doi: 10.1016/j.stemcr.2017.09.016. Epub 2017 Oct 19.
- Chen IP, Wang L, Jiang X, Aguila HL, Reichenberger EJ. A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD). Hum Mol Genet. 2011 Mar 1;20(5):948-61. doi: 10.1093/hmg/ddq541. Epub 2010 Dec 13.
- 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. doi: 10.1086/509881. Epub 2006 Oct 16.
- Korostishevsky M, Vistoropsky Y, Malkin I, Kobyliansky E, Livshits G. Anthropometric and bone-related biochemical factors are associated with different haplotypes of ANKH locus. Ann Hum Biol. 2008 Sep-Oct;35(5):535-46. doi: 10.1080/03014460802304588.
- Malkin I, Dahm S, Suk A, Kobyliansky E, Toliat M, Ruf N, Livshits G, Nurnberg P. Association of ANKH gene polymorphisms with radiographic hand bone size and geometry in a Chuvasha population. Bone. 2005 Feb;36(2):365-73. doi: 10.1016/j.bone.2004.09.002.
- Malkin I, Ermakov S, Kobyliansky E, Livshits G. Strong association between polymorphisms in ANKH locus and skeletal size traits. Hum Genet. 2006 Aug;120(1):42-51. doi: 10.1007/s00439-006-0173-6. Epub 2006 Apr 26.
- Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet. 2001 May;28(1):37-41. doi: 10.1038/ng0501-37.
- Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM. Mutations in ANKH cause chondrocalcinosis. Am J Hum Genet. 2002 Oct;71(4):933-40. doi: 10.1086/343054. Epub 2002 Sep 20.
- Reichenberger E, Chen IP. Autosomal Dominant Craniometaphyseal Dysplasia. 2007 Aug 27 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1461/
- Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16.
- Tsui HW, Inman RD, Paterson AD, Reveille JD, Tsui FW. ANKH variants associated with ankylosing spondylitis: gender differences. Arthritis Res Ther. 2005;7(3):R513-25. doi: 10.1186/ar1701. Epub 2005 Feb 25.
- Williams CJ. The role of ANKH in pathologic mineralization of cartilage. Curr Opin Rheumatol. 2016 Mar;28(2):145-51. doi: 10.1097/BOR.0000000000000247.
- Zaka R, Williams CJ. Genetics of chondrocalcinosis. Osteoarthritis Cartilage. 2005 Sep;13(9):745-50. doi: 10.1016/j.joca.2005.04.006.
- Zaka R, Williams CJ. Role of the progressive ankylosis gene in cartilage mineralization. Curr Opin Rheumatol. 2006 Mar;18(2):181-6. doi: 10.1097/01.bor.0000209432.36355.6e.
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