lunes, 28 de marzo de 2016

KLHL3 - kelch like family member 3 - Genetics Home Reference

KLHL3 - kelch like family member 3 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the KLHL3 gene?

The official name of this gene is “kelch like family member 3.”
KLHL3 is the gene's official symbol. The KLHL3 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 KLHL3 gene?

The KLHL3 gene provides instructions for making a protein that plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system.
The KLHL3 protein is one 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.
The KLHL3 protein identifies the target of the E3 ubiquitin ligase complex and attaches the complex to it. Complexes containing the KLHL3 protein tag proteins called WNK1 and WNK4 with ubiquitin. The WNK1 and WNK4 proteins are involved in controlling blood pressure in the body. By regulating the amount of these proteins available, KLHL3 plays a role in blood pressure control.

How are changes in the KLHL3 gene related to health conditions?

pseudohypoaldosteronism type 2 - caused by mutations in the KLHL3 gene
At least 36 KLHL3 gene mutations have been found to cause pseudohypoaldosteronism type 2 (PHA2), a condition characterized by high blood pressure (hypertension) and high levels of potassium in the blood (hyperkalemia). These mutations alter the KLHL3 protein, impairing its ability to attach to the E3 ubiquitin ligase complex or to WNK4. As a result, the complex is unable to tag WNK4 with ubiquitin, and degradation of the protein is impaired. An excess of WNK4 disrupts normal control of blood pressure, leading to hypertension and the other features of PHA2. It is unknown if WNK1 is affected by the abnormal E3 ubiquitin ligase complex or whether WNK1 plays a role in development of PHA2 caused by KLHL3 gene mutations.

Where is the KLHL3 gene located?

Cytogenetic Location: 5q31
Molecular Location on chromosome 5: base pairs 137,617,500 to 137,736,090
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)
The KLHL3 gene is located on the long (q) arm of chromosome 5 at position 31.
The KLHL3 gene is located on the long (q) arm of chromosome 5 at position 31.
More precisely, the KLHL3 gene is located from base pair 137,617,500 to base pair 137,736,090 on chromosome 5.

Where can I find additional information about KLHL3?

You and your healthcare professional may find the following resources about KLHL3 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 KLHL3 gene or gene products?

  • kelch-like family member 3
  • kelch-like protein 3 isoform 1
  • kelch-like protein 3 isoform 2
  • kelch-like protein 3 isoform 3
  • KIAA1129
  • PHA2D

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 KLHL3?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (7 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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