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Genetics Home Reference: your guide to understanding genetic conditions
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VPS13B

Reviewed January 2008

What is the official name of the VPS13B gene?

The official name of this gene is “vacuolar protein sorting 13 homolog B (yeast).”

VPS13B is the gene's official symbol. The VPS13B gene is also known by other names, listed below.

What is the normal function of the VPS13B gene?

Researchers have not determined the role of the VPS13B gene (frequently called the COH1 gene) in the human body. Studies have shown that it has some similarities to a gene found in yeast that is involved in sorting and transporting proteins inside the cell. The human VPS13B gene is normally turned on in most cells of the body, which suggests that it plays an important role in cellular function. It may be particularly important in the formation of blood cells and the development and function of the eye and brain.

How are changes in the VPS13B gene related to health conditions?

Cohen syndrome - caused by mutations in the VPS13B gene

At least 73 different mutations in the VPS13B gene have been shown to cause Cohen syndrome. Most of these mutations result in a premature stop signal in the instructions for making the VPS13B protein. Researchers believe that this genetic change leads to the production of an abnormally short, nonfunctional version of the protein. It is not known how the absence of the VPS13B protein leads to the signs and symptoms of Cohen syndrome.

In the Finnish population, 75 percent of individuals with Cohen syndrome have a mutation in the VPS13B gene that deletes two DNA building blocks (base pairs). This mutation is sometimes written as 3348_3349delCT. The deletion causes a premature stop signal in the instructions for making the VPS13B protein.

Two common mutations are seen in the Old Order Amish population. The first mutation inserts one base pair and is sometimes written as 9258_9259insT. This mutation creates a premature stop signal in the instructions for making the VPS13B protein. The second mutation changes a single protein building block (amino acid) in the VPS13B protein. Specifically, this mutation replaces the amino acid isoleucine with the amino acid threonine at position 2820 (written as Ile2820Thr or I2820T). Outside the Finnish and Amish populations, nearly all mutations in the VPS13B gene are seen in only one or a small number of families.

Where is the VPS13B gene located?

Cytogenetic Location: 8q22.2

Molecular Location on chromosome 8: base pairs 99,011,178 to 99,878,218

The VPS13B gene is located on the long (q) arm of chromosome 8 at position 22.2.

The VPS13B gene is located on the long (q) arm of chromosome 8 at position 22.2.

More precisely, the VPS13B gene is located from base pair 99,011,178 to base pair 99,878,218 on chromosome 8.

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 VPS13B?

You and your healthcare professional may find the following resources about VPS13B 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 VPS13B gene or gene products?

  • CHS1
  • COH1
  • Cohen syndrome 1
  • DKFZp313I0811
  • KIAA0532
  • vacuolar protein sorting 13B
  • VP13B_HUMAN

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 VPS13B?

amino acid ; base pair ; cell ; deletion ; DNA ; gene ; isoleucine ; mutation ; population ; protein ; syndrome ; threonine

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

References

  • Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Cohen syndrome in the Ohio Amish. Am J Med Genet A. 2004 Jul 1;128A(1):23-8. (http://www.ncbi.nlm.nih.gov/pubmed/15211651?dopt=Abstract)
  • Gene Review: Cohen Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1482/)
  • Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet. 2004 Jul;75(1):138-45. Epub 2004 May 20. (http://www.ncbi.nlm.nih.gov/pubmed/15154116?dopt=Abstract)
  • Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet. 2003 Jun;72(6):1359-69. Epub 2003 May 2. (http://www.ncbi.nlm.nih.gov/pubmed/12730828?dopt=Abstract)
  • Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet. 2004 Jul;75(1):122-7. Epub 2004 May 12. (http://www.ncbi.nlm.nih.gov/pubmed/15141358?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/157680)
  • Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet. 2006 May;43(5):e22. (http://www.ncbi.nlm.nih.gov/pubmed/16648375?dopt=Abstract)
  • Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP. Analysis of the human VPS13 gene family. Genomics. 2004 Sep;84(3):536-49. (http://www.ncbi.nlm.nih.gov/pubmed/15498460?dopt=Abstract)

 

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.

 
Reviewed: January 2008
Published: July 7, 2014