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Genetics Home Reference: your guide to understanding genetic conditions
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ANKRD gene family

Reviewed August 2013

What are the ANKRD genes?

Genes in the ankyrin repeat domain containing family provide instructions for making proteins that contain a specific sequence of approximately 33 protein building blocks (amino acids) called an ankyrin domain. Depending on the protein, the ankyrin domain can appear once or be repeated more than 30 times. Proteins that contain ankyrin domains perform a wide variety of functions, including regulating the cell cycle and protein production. These proteins also play roles in the organization of cells' structure, cell signaling, and immune response. Most ankyrin repeat domain containing proteins perform their functions by assisting in interactions between proteins.

The ankyrin domain was named for the ankyrin protein, which was discovered to have 24 copies of this domain.

Because the proteins that contain ankyrin domains are so diverse, changes in these proteins can cause genetic conditions with a wide range of signs and symptoms.

Which genes are included in the ANKRD gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the ANKRD family (http://www.genenames.org/genefamilies/ANKRD).

Genetics Home Reference summarizes the normal function and health implications of these members of the ANKRD gene family: ANK1, ANK2, BARD1, BCOR, EHMT1, ESPN, KRIT1, NFKBIA, NOTCH2, NOTCH3, PLA2G6, PPP1R12A, SHANK3, SNCAIP, TRPV4, and USH1G.

What conditions are related to genes in the ANKRD gene family?

Genetics Home Reference includes these conditions related to genes in the ANKRD gene family:

  • 22q13.3 deletion syndrome
  • Alagille syndrome
  • anhidrotic ectodermal dysplasia with immune deficiency
  • breast cancer
  • cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • cerebral cavernous malformation
  • Charcot-Marie-Tooth disease
  • hereditary spherocytosis
  • infantile neuroaxonal dystrophy
  • Kleefstra syndrome
  • Lenz microphthalmia syndrome
  • metatropic dysplasia
  • microphthalmia
  • neuroblastoma
  • nonsyndromic deafness
  • oculofaciocardiodental syndrome
  • Romano-Ward syndrome
  • Usher syndrome

Where can I find additional information about the ANKRD gene family?

You may find the following resources about the ANKRD gene family helpful.

  • InterPro: Ankyrin Repeat (http://www.ebi.ac.uk/interpro/entry/IPR002110)
  • Sanger Institute Pfam: Ankyrin Repeat (http://pfam.sanger.ac.uk/family/PF00023)

What glossary definitions help with understanding the ANKRD gene family?

acids ; autosomal ; autosomal recessive ; B-cells ; calcium ; cation ; cell ; cell cycle ; channel ; corepressor ; domain ; enhancer ; gene ; histone ; immune response ; lysine ; methyltransferase ; phosphatase ; protein ; receptor ; recessive ; subunit ; syndrome ; transient

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the ANKRD gene family.

  • Mosavi LK, Cammett TJ, Desrosiers DC, Peng ZY. The ankyrin repeat as molecular architecture for protein recognition. Protein Sci. 2004 Jun;13(6):1435-48. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15152081?dopt=Abstract)
  • Barrick D, Ferreiro DU, Komives EA. Folding landscapes of ankyrin repeat proteins: experiments meet theory. Curr Opin Struct Biol. 2008 Feb;18(1):27-34. doi: 10.1016/j.sbi.2007.12.004. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18243686?dopt=Abstract)
  • Barash IA, Bang ML, Mathew L, Greaser ML, Chen J, Lieber RL. Structural and regulatory roles of muscle ankyrin repeat protein family in skeletal muscle. Am J Physiol Cell Physiol. 2007 Jul;293(1):C218-27. Epub 2007 Mar 28. (http://www.ncbi.nlm.nih.gov/pubmed/17392382?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2013
Published: July 28, 2014