lunes, 28 de marzo de 2016

CUL3 - cullin 3 - Genetics Home Reference

CUL3 - cullin 3 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the CUL3 gene?

The official name of this gene is “cullin 3.”
CUL3 is the gene's official symbol. The CUL3 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 CUL3 gene?

The CUL3 gene provides instructions for making a protein called cullin-3. This protein plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system.
Cullin-3 is a core piece of a complex known as an E3 ubiquitin ligase. E3 ubiquitin ligases function as part of the ubiquitin-proteasome system by tagging damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to specialized cell structures known as proteasomes, which attach (bind) to the tagged proteins and degrade them. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth.
E3 ubiquitin ligases containing the cullin-3 protein tag proteins called WNK1 and WNK4 with ubiquitin. These proteins are involved in controlling blood pressure in the body. By regulating the amount of WNK1 and WNK4 available, cullin-3 plays a role in blood pressure control.

How are changes in the CUL3 gene related to health conditions?

pseudohypoaldosteronism type 2 - caused by mutations in the CUL3 gene
At least 17 mutations in the CUL3 gene can cause pseudohypoaldosteronism type 2 (PHA2), a condition characterized by high blood pressure (hypertension) and high levels of potassium in the blood (hyperkalemia). These mutations lead to production of an abnormally short cullin-3 protein that is missing a region. Studies show that this change alters the function of the E3 ubiquitin ligase complex. The change leads to impaired degradation of the WNK4 protein, although the exact mechanism is unclear. The resulting excess of WNK4 protein disrupts normal control of blood pressure, causing hypertension and other features of PHA2. It is unknown if WNK1 is affected by the alterations to the E3 ubiquitin ligase or whether WNK1 plays a role in PHA2 caused by CUL3 gene mutations.

Where is the CUL3 gene located?

Cytogenetic Location: 2q36.2
Molecular Location on chromosome 2: base pairs 224,470,150 to 224,585,397
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)
The CUL3 gene is located on the long (q) arm of chromosome 2 at position 36.2.
The CUL3 gene is located on the long (q) arm of chromosome 2 at position 36.2.
More precisely, the CUL3 gene is located from base pair 224,470,150 to base pair 224,585,397 on chromosome 2.

Where can I find additional information about CUL3?

You and your healthcare professional may find the following resources about CUL3 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 CUL3 gene or gene products?

  • CUL-3
  • cullin-3 isoform 1
  • cullin-3 isoform 2
  • cullin-3 isoform 3
  • PHA2E

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 CUL3?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (6 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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