domingo, 26 de julio de 2015

ADCY5 - adenylate cyclase 5 - Genetics Home Reference

ADCY5 - adenylate cyclase 5 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the ADCY5 gene?

The official name of this gene is “adenylate cyclase 5.”
ADCY5 is the gene's official symbol. The ADCY5 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 ADCY5 gene?

The ADCY5 gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a molecule that supplies energy for cells' activities, including muscle contraction, and cAMP is involved in signaling for many cellular functions.

How are changes in the ADCY5 gene related to health conditions?

ADCY5-related dyskinesia - caused by mutations in the ADCY5 gene
At least three ADCY5 gene mutations have been identified in people with ADCY5-related dyskinesia, a disorder that causes abnormal involuntary movements. These mutations are thought to enhance adenylate cyclase 5 enzyme activity and lead to higher levels of cAMP within cells, so they are described as "gain-of-function" mutations. Other ADCY5 gene mutations prevent production of adenylate cyclase 5. It is unclear how either type of mutation leads to the abnormal movements that occur in this disorder.
other disorders - increased risk from variations of the ADCY5 gene
Certain normal variations (polymorphisms) in the ADCY5 gene have been associated with an increased risk of type 2 diabetes mellitus, which is the most common form of diabetes and results in impaired control of blood sugar. cAMP normally increases in response to increases in blood sugar and is involved in signaling that stimulates the production of insulin. Researchers suggest that the polymorphisms associated with increased type 2 diabetes risk may decrease the ability of the adenylate cyclase 5 enzyme to produce cAMP, resulting in the abnormal response to sugar that occurs in type 2 diabetes.

Where is the ADCY5 gene located?

Cytogenetic Location: 3q21.1
Molecular Location on chromosome 3: base pairs 123,282,295 to 123,448,637
The ADCY5 gene is located on the long (q) arm of chromosome 3 at position 21.1.
The ADCY5 gene is located on the long (q) arm of chromosome 3 at position 21.1.
More precisely, the ADCY5 gene is located from base pair 123,282,295 to base pair 123,448,637 on chromosome 3.

Where can I find additional information about ADCY5?

You and your healthcare professional may find the following resources about ADCY5 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 ADCY5 gene or gene products?

  • AC5
  • adenylate cyclase type 5
  • adenylate cyclase type 5 isoform 1
  • adenylate cyclase type 5 isoform 2
  • adenylate cyclase type V
  • adenylyl cyclase 5
  • ATP pyrophosphate-lyase 5
  • FDFM

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 ADCY5?

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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