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ANKH

ANKH

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?

craniometaphyseal dysplasia - caused by mutations in the ANKH gene

At least seven mutations in the ANKH gene have been found to cause craniometaphyseal dysplasia. Some mutations change a single protein building block (amino acid) in the ANKH protein, whereas others insert or delete an amino acid in the ANKH protein. These mutations most likely decrease the protein's ability to transport pyrophosphate out of cells. Reduced levels of pyrophosphate increase bone mineralization, which may contribute to the bone overgrowth seen in craniometaphyseal dysplasia.

other disorders - associated with the ANKH gene

About five mutations in the ANKH gene have been found to cause a rare hereditary form of calcium pyrophosphate dihydrate deposition disease (CPPDD). CPPDD, also called chondrocalcinosis or pseudogout, is characterized by the accumulation of calcium pyrophosphate dihydrate crystals in the cartilage of joints. The buildup of these crystals weakens cartilage and causes it to break down more easily. The crystals may cause pain and inflammation in the joints. Most cases of CPPDD occur in people older than 40, are not inherited, and have an unknown cause.

Mutations in the ANKH gene have been shown to cause CPPDD in a few families. In these families, one altered copy of the ANKH gene in each cell is sufficient to cause the condition. Individuals with familial CPPDD caused by ANKH mutations typically form crystal deposits within multiple joints during early adulthood. Researchers believe that these mutations lead to elevated pyrophosphate levels in the extracellular matrix. High levels of pyrophosphate result in excessive formation of calcium pyrophosphate dihydrate crystals within joints.

Studies suggest that certain variations (polymorphisms) in the ANKH gene are associated with the normal difference in bone size and shape among individuals. These polymorphisms probably result in slight changes in the activity of the ANKH protein, affecting the levels of pyrophosphate in the extracellular matrix.

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.

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?

  • ANK
  • ANKH_HUMAN
  • ankylosis, progressive homolog (mouse)
  • FLJ27166
  • HANK
  • MANK
  • progressive ankylosis protein

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 ; hereditary ; inflammation ; inherited ; 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.

 
Reviewed: February 2009
Published: September 29, 2014