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Genetics Home Reference: your guide to understanding genetic conditions
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VANGL1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the VANGL1 gene?

The official name of this gene is “VANGL planar cell polarity protein 1.”

VANGL1 is the gene's official symbol. The VANGL1 gene is also known by other names, listed below.

What is the normal function of the VANGL1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/81839):

This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

How are changes in the VANGL1 gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/Q8TAA9) provides the following information about the VANGL1 gene's known or predicted involvement in human disease.

Neural tube defects (NTD): Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.[1] The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/81839) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the VANGL1 gene.
  • Neural tube defect[1]
  • Sacral defect with anterior meningocele[2]
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]

Where is the VANGL1 gene located?

Cytogenetic Location: 1p13.1

Molecular Location on chromosome 1: base pairs 115,641,952 to 115,698,223

The VANGL1 gene is located on the short (p) arm of chromosome 1 at position 13.1.

The VANGL1 gene is located on the short (p) arm of chromosome 1 at position 13.1.

More precisely, the VANGL1 gene is located from base pair 115,641,952 to base pair 115,698,223 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about VANGL1?

You and your healthcare professional may find the following resources about VANGL1 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 VANGL1 gene or gene products?

  • KITENIN
  • LPP2
  • STB2
  • STBM2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding VANGL1?

alternate splicing ; anterior ; autosomal ; autosomal dominant ; axis ; caudal ; central nervous system ; chronic ; congenital ; constipation ; dysgenesis ; embryonic ; etiology ; gene ; inheritance ; mediating ; meningocele ; mucosa ; nervous system ; neural tube defects ; obstructive ; protein ; splicing ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: July 21, 2014