lunes, 28 de septiembre de 2015

RAD21 - RAD21 cohesin complex component - Genetics Home Reference

RAD21 - RAD21 cohesin complex component - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the RAD21 gene?

The official name of this gene is “RAD21 cohesin complex component.”
RAD21 is the gene's official symbol. The RAD21 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 RAD21 gene?

The RAD21 gene provides instructions for making a protein that is involved in regulating the structure and organization of chromosomes during cell division.
Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. The RAD21 protein is part of a protein group called the cohesin complex that holds the sister chromatids together.
Researchers believe that the RAD21 protein, as a structural component of the cohesin complex, also plays important roles in stabilizing cells' genetic information, repairing damaged DNA, and regulating the activity of certain genes that are essential for normal development.

How are changes in the RAD21 gene related to health conditions?

Cornelia de Lange syndrome - caused by mutations in the RAD21 gene
At least six mutations in the RAD21 gene have been identified in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of the body. Mutations in this gene appear to be an uncommon cause of this condition.
Some cases of Cornelia de Lange syndrome have resulted from a deletion that removes a segment of DNA on chromosome 21 including the RAD21 gene. In these cases, the entire gene is missing from one copy of the chromosome in each cell, so cells produce a reduced amount of RAD21 protein. In other cases, the condition is caused by mutations within the gene that impair or eliminate the function of the RAD21 protein. A defective or missing RAD21 protein likely alters the activity of the cohesin complex, impairing its ability to regulate genes that are critical for normal development. Although researchers do not fully understand how these changes cause Cornelia de Lange syndrome, they suspect that altered gene regulation probably underlies many of the developmental problems characteristic of the condition.
Studies suggest that mutations in the RAD21 gene cause a form of Cornelia de Lange syndrome with relatively mild features. Compared to mutations in the NIPBL gene, which are the most common known cause of the disorder, RAD21 gene mutations cause less significant delays in development and growth and are less likely to cause major birth defects.

Where is the RAD21 gene located?

Cytogenetic Location: 8q24
Molecular Location on chromosome 8: base pairs 116,845,933 to 116,874,865
The RAD21 gene is located on the long (q) arm of chromosome 8 at position 24.
The RAD21 gene is located on the long (q) arm of chromosome 8 at position 24.
More precisely, the RAD21 gene is located from base pair 116,845,933 to base pair 116,874,865 on chromosome 8.

Where can I find additional information about RAD21?

You and your healthcare professional may find the following resources about RAD21 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 RAD21 gene or gene products?

  • CDLS4
  • double-strand-break repair protein rad21 homolog
  • hHR21
  • HR21
  • HRAD21
  • KIAA0078
  • kleisin
  • MCD1
  • nuclear matrix protein 1
  • NXP1
  • NXP-1
  • RAD21 homolog
  • SCC1
  • SCC1 homolog
  • sister chromatid cohesion 1

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 RAD21?

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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