lunes, 28 de septiembre de 2015

DVL1 - dishevelled segment polarity protein 1 - Genetics Home Reference

DVL1 - dishevelled segment polarity protein 1 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the DVL1 gene?

The official name of this gene is “dishevelled segment polarity protein 1.”
DVL1 is the gene's official symbol. The DVL1 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 DVL1 gene?

The DVL1 gene provides instructions for making a protein that plays a critical role in development starting before birth. The DVL1 protein participates in chemical signaling pathways known as WNT signaling. These pathways control the activity of certain genes and regulate the interactions between cells during embryonic development. Signaling involving the DVL1 protein appears to be important for the normal development of the brain, skeleton, and many other parts of the body.

How are changes in the DVL1 gene related to health conditions?

Robinow syndrome - caused by mutations in the DVL1 gene
At least six mutations in the DVL1 gene have been found to cause the autosomal dominant form of Robinow syndrome, a condition that affects the development of many parts of the body, particularly the bones. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. DVL1 gene mutations underlie a variant type of this condition called the osteosclerotic form. Signs and symptoms of the osteosclerotic form include increased bone mineral density (osteosclerosis) in addition to the usual features of Robinow syndrome.
All of the identified DVL1 gene mutations occur in a region of the gene known as exon 14. Each mutation is predicted to remove a segment of protein building blocks (amino acids) from one end of the DVL1 protein and add more than 100 new amino acids. Researchers are working to determine how these structural changes affect the protein's function. The changes may have a dominant-negative effect, which would mean that the altered protein produced from one copy of the DVL1 gene interferes with the function of the normal protein produced from the other copy of the gene. Alternately, the changes may have a gain-of-function effect, giving the altered protein a new, as-yet-undetermined function. Either way, the altered protein likely impairs WNT signaling. Problems with these signaling pathways disrupt the normal development of many organs and tissues, leading to the features of Robinow syndrome. It is unclear why DVL1gene mutations cause osteosclerosis in addition to the usual signs and symptoms of the condition.

Where is the DVL1 gene located?

Cytogenetic Location: 1p36
Molecular Location on chromosome 1: base pairs 1,335,277 to 1,349,157
The DVL1 gene is located on the short (p) arm of chromosome 1 at position 36.
The DVL1 gene is located on the short (p) arm of chromosome 1 at position 36.
More precisely, the DVL1 gene is located from base pair 1,335,277 to base pair 1,349,157 on chromosome 1.

Where can I find additional information about DVL1?

You and your healthcare professional may find the following resources about DVL1 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 DVL1 gene or gene products?

  • dishevelled-1
  • dishevelled 1 (homologous to Drosophila dsh)
  • dishevelled, dsh homolog 1
  • DRS2
  • DSH homolog 1
  • DVL
  • DVL1L1
  • DVL1P1
  • segment polarity protein dishevelled homolog DVL-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 DVL1?

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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