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Reviewed February 2009
What is the official name of the ANKH gene?
The official name of this gene is “ANKH inorganic pyrophosphate transport regulator.”
ANKH is the gene's official symbol. The ANKH gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the ANKH gene?
The ANKH gene provides instructions for making a protein that is present in bone. This protein transports a molecule called pyrophosphate out of cells to the intricate network of proteins that forms in the spaces between cells (extracellular matrix). Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions.
How are changes in the ANKH gene related to health conditions?
Where is the ANKH gene located?
Cytogenetic Location: 5p15.1
Molecular Location on chromosome 5: base pairs 14,704,799 to 14,871,777
The ANKH gene is located on the short (p) arm of chromosome 5 at position 15.1.
More precisely, the ANKH gene is located from base pair 14,704,799 to base pair 14,871,777 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ANKH?
You and your healthcare professional may find the following resources about ANKH helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the ANKH gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ANKH?
amino acid ; ankylosis ; bone formation ; bone mineralization ; calcium ; cartilage ; cell ; dysplasia ; extracellular ; extracellular matrix ; familial ; gene ; inflammation ; molecule ; phosphorus ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.