ANKH

Last updated

ANKH
Identifiers
Aliases ANKH , ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, ANKH inorganic pyrophosphate transport regulator, SLC62A1
External IDs OMIM: 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 Mb Chr 15: 27.47 – 27.59 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Contents

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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000154122 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022265 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Ho AM, Johnson MD, Kingsley DM (Jul 2000). "Role of the mouse ank gene in control of tissue calcification and arthritis". Science. 289 (5477). New York, N.Y.: 265–270. Bibcode:2000Sci...289..265H. doi:10.1126/science.289.5477.265. PMID   10894769.
  6. Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, et al. (Sep 2002). "Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH". American Journal of Human Genetics. 71 (4): 985–991. doi:10.1086/343053. PMC   419998 . PMID   12297989.
  7. 1 2 3 "Entrez Gene: ANKH ankylosis, progressive homolog (mouse)".
  8. Hall ME, Hall JE (2021). "Chapter 55 - Spinal Cord Motor Functions; the Cord Reflexes". Guyton and Hall Textbook of Medical Physiology (14th ed.). Philadelphia, PA: Elsevier. p. 995. ISBN   978-0-323-59712-8.

Further reading