jueves, 14 de mayo de 2015

ARMC5 - armadillo repeat containing 5 - Genetics Home Reference

ARMC5 - armadillo repeat containing 5 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the ARMC5 gene?

The official name of this gene is “armadillo repeat containing 5.”
ARMC5 is the gene's official symbol. The ARMC5 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 ARMC5 gene?

The ARMC5 gene provides instructions for making a protein about which little is known. It is found mainly in the fluid surrounding the cell nucleus (cytoplasm), and studies suggest that its function depends on interacting with other proteins. It is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way.

How are changes in the ARMC5 gene related to health conditions?

primary macronodular adrenal hyperplasia - caused by mutations in the ARMC5 gene
At least 24 mutations in the ARMC5 gene have been identified in people with primary macronodular adrenal hyperplasia (PMAH), a disorder that causes multiple lumps (nodules) to form in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules cause adrenal gland enlargement (hyperplasia) and result in production of higher-than-normal levels of the hormone cortisol. Cortisol normally helps maintain blood sugar levels, protects the body from physical stress, and suppresses inflammation. Increased cortisol levels can lead to weight gain in the face and upper body, fragile skin, bone loss, fatigue, and other health problems, which often occur in people with PMAH.
People with PMAH caused by ARMC5 gene mutations inherit one copy of the mutated gene in each cell. However, the condition develops only when affected individuals acquire a second mutation in the other copy of the ARMC5 gene in certain cells of the adrenal glands. This second mutation is described as somatic. Instead of being passed from parent to child, somatic mutations are acquired during a person's lifetime and are present only in certain cells. Because somatic mutations are also required for PMAH to occur, some people who have inherited the altered ARMC5 gene never develop the condition, a situation known as reduced penetrance.
The ARMC5 gene mutations that cause PMAH are thought to impair the protein's tumor suppressor function, which allows the overgrowth of certain cells. It is unclear why this overgrowth is limited to the adrenal glands in people with PMAH.

Where is the ARMC5 gene located?

Cytogenetic Location: 16p11.2
Molecular Location on chromosome 16: base pairs 31,458,272 to 31,467,166
The ARMC5 gene is located on the short (p) arm of chromosome 16 at position 11.2.
The ARMC5 gene is located on the short (p) arm of chromosome 16 at position 11.2.
More precisely, the ARMC5 gene is located from base pair 31,458,272 to base pair 31,467,166 on chromosome 16.

Where can I find additional information about ARMC5?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ARMC5 gene or gene products?

  • FLJ13063

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 ARMC5?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (8 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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