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VAPB

Reviewed August 2007

What is the official name of the VAPB gene?

The official name of this gene is “VAMP (vesicle-associated membrane protein)-associated protein B and C.”

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

What is the normal function of the VAPB gene?

The VAPB gene provides instructions for making a protein that is found in cells throughout the body. Little is known about the function of the VAPB protein. Research indicates that this protein is associated with the membrane that surrounds the endoplasmic reticulum, a specialized structure within cells. Among its many functions, the endoplasmic reticulum folds newly formed proteins and prepares them for transit within the cell or to the cell surface. To function efficiently, the endoplasmic reticulum relies on a system that detects a buildup of unfolded or misfolded proteins. The cell's response to prevent or correct this buildup is called the unfolded protein response. Researchers suggest that the VAPB protein may play an important role in the unfolded protein response.

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

amyotrophic lateral sclerosis - caused by mutations in the VAPB gene

Researchers have identified one VAPB mutation in people with amyotrophic lateral sclerosis type 8. This mutation changes one of the building blocks (amino acids) used to make the VAPB protein. Specifically, the amino acid proline is replaced with the amino acid serine at position 56 in the VAPB protein (written as Pro56Ser or P56S). It is unclear how the VAPB mutation leads to the loss of nerve cells that control muscle movement, a characteristic feature of amyotrophic lateral sclerosis. Researchers suggest that the P56S mutation disrupts the unfolded protein response. As a result, misfolded and unfolded proteins may accumulate to a level that impairs the normal function of nerve cells.

spinal muscular atrophy - caused by mutations in the VAPB gene

Researchers have identified one VAPB mutation in people with an adult-onset form of spinal muscular atrophy known as Finkel type. This mutation changes one of the building blocks (amino acids) used to make the VAPB protein. Specifically, the amino acid proline is replaced with the amino acid serine at position 56 in the VAPB protein (written as Pro56Ser or P56S). It is unknown how the VAPB mutation leads to the loss of nerve cells that control muscle movement, a characteristic feature of spinal muscular atrophy. Researchers suggest that the P56S mutation disrupts the unfolded protein response. As a result, misfolded and unfolded proteins may accumulate to a level that impairs the normal function of nerve cells.

Where is the VAPB gene located?

Cytogenetic Location: 20q13.33

Molecular Location on chromosome 20: base pairs 56,397,650 to 56,455,368

The VAPB gene is located on the long (q) arm of chromosome 20 at position 13.33.

The VAPB gene is located on the long (q) arm of chromosome 20 at position 13.33.

More precisely, the VAPB gene is located from base pair 56,397,650 to base pair 56,455,368 on chromosome 20.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about VAPB?

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

  • ALS8
  • VAMP-B
  • VAMP-C
  • VAP-B
  • VAPB_HUMAN
  • VAP-C

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 VAPB?

acids ; amino acid ; atrophy ; cell ; endoplasmic reticulum ; gene ; mutation ; nerve cell ; protein ; sclerosis ; serine ; vesicle

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

References (4 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.

 
Reviewed: August 2007
Published: January 23, 2009