ANKH

Protein and coding gene in humans From Wikipedia, the free encyclopedia

Progressive ankylosis protein homolog (ANK ilosis H omolog) is a protein that in humans is encoded by the ANKH gene.[5][6][7] ANKH is a multipass transmembrane protein that is expressed in joints and other tissues.[7] It is involved in transport of pyrophosphate (an inhibitor of hydroxyapatite precipitation) from cells into the extracellular space. It is expressed in osteoblasts. Deficiencies of ANKH are associated with excessive calcification of bone and with metastatic calcification.[8]

AliasesANKH, ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, ANKH inorganic pyrophosphate transport regulator, SLC62A1
End14,871,778 bp[1]
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ANKH
Identifiers
AliasesANKH, ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, ANKH inorganic pyrophosphate transport regulator, SLC62A1
External IDsOMIM: 605145; MGI: 3045421; HomoloGene: 10664; GeneCards: ANKH; OMA:ANKH - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_054027

NM_020332

RefSeq (protein)

NP_473368

NP_065065

Location (UCSC)Chr 5: 14.7 – 14.87 MbChr 15: 27.47 – 27.59 Mb
PubMed search[3][4]
Wikidata
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Research

In a mouse model, mutation at the Ank locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. The human homolog is virtually identical to the mouse protein and ANKH-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.[7]

References

Further reading

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