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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.
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.
Genetics Home Reference includes these conditions related to genes in the ANKRD gene family:
You may find the following resources about the ANKRD gene family helpful.
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).
These sources were used to develop the Genetics Home Reference summary for the ANKRD gene family.
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.