miércoles, 21 de enero de 2015

ANKRD11 - ankyrin repeat domain 11 - Genetics Home Reference

ANKRD11 - ankyrin repeat domain 11 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the ANKRD11 gene?

The official name of this gene is “ankyrin repeat domain 11.”
ANKRD11 is the gene's official symbol. The ANKRD11 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 ANKRD11 gene?

The ANKRD11 gene provides instructions for making a protein called ankyrin repeat domain 11 (ANKRD11). As its name suggests, this protein contains multiple regions called ankyrin domains; proteins with these domains help other proteins interact with each other. The ANKRD11 protein interacts with certain proteins called histone deacetylases, which are important for controlling gene activity. Through these interactions, ANKRD11 affects when genes are turned on and off. For example, ANKRD11 brings together histone deacetylases and other proteins called p160 coactivators. This association regulates the ability of p160 coactivators to turn on gene activity. ANKRD11 may also enhance the activity of a protein called p53, which controls the growth and division (proliferation) and the self-destruction (apoptosis) of cells.
The ANKRD11 protein is found in nerve cells (neurons) in the brain. During embryonic development, ANKRD11 helps regulate the proliferation of these cells and development of the brain. Researchers speculate that the protein may also be involved in the ability of neurons to change and adapt over time (plasticity), which is important for learning and memory. ANKRD11 may function in other cells in the body and appears to be involved in normal bone development.

Does the ANKRD11 gene share characteristics with other genes?

The ANKRD11 gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the ANKRD11 gene related to health conditions?

KBG syndrome - caused by mutations in the ANKRD11 gene
Several ANKRD11 gene mutations have been found to cause KBG syndrome, a condition characterized by large upper front teeth and other unusual facial features, skeletal abnormalities, and intellectual disability. Most of these mutations lead to an abnormally short ANKRD11 protein, which likely has little or no function. Reduction of this protein's function is thought to underlie the signs and symptoms of the condition. Because ANKRD11 is thought to play an important role in neurons and brain development, researchers speculate that a partial loss of its function may lead to developmental delay and intellectual disability in KBG syndrome. However, the mechanism is not fully known. It is also unclear how loss of ANKRD11 function leads to the skeletal features of the condition.
Another type of mutation that affects the ANKRD11 gene, called 16q24.3 microdeletion, deletes genetic material from chromosome 16 in a region designated q24.3. The deleted region typically removes the ANKRD11 and ZNF778 genes, although other nearby genes may also be affected. People with this type of mutation have similar signs and symptoms to those of KBG syndrome, including unusual facial features and intellectual disability. Many also have brain abnormalities and features of autism spectrum disorders, which are characterized by impaired communication and socialization skills. Some researchers think that these microdeletions are different enough from KBG syndrome to be considered a separate disorder, called 16q24.3 microdeletion syndrome.

Where is the ANKRD11 gene located?

Cytogenetic Location: 16q24.3
Molecular Location on chromosome 16: base pairs 89,267,618 to 89,490,560
The ANKRD11 gene is located on the long (q) arm of chromosome 16 at position 24.3.
The ANKRD11 gene is located on the long (q) arm of chromosome 16 at position 24.3.
More precisely, the ANKRD11 gene is located from base pair 89,267,618 to base pair 89,490,560 on chromosome 16.

Where can I find additional information about ANKRD11?

You and your healthcare professional may find the following resources about ANKRD11 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 ANKRD11 gene or gene products?

  • ANCO1
  • ANCO-1
  • ankyrin repeat-containing cofactor 1
  • ankyrin repeat domain-containing protein 11
  • LZ16
  • nasopharyngeal carcinoma susceptibility protein
  • T13

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 ANKRD11?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (10 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.

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