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Genetics Home Reference: your guide to understanding genetic conditions
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STAMBP

Reviewed February 2014

What is the official name of the STAMBP gene?

The official name of this gene is “STAM binding protein.”

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

What is the normal function of the STAMBP gene?

The STAMBP gene provides instructions for making a protein called STAM binding protein. Although its exact function is not well understood, within cells this protein interacts with large groups of interrelated proteins known as endosomal sorting complexes required for transport (ESCRTs). ESCRTs help transport proteins from the outer cell membrane to the interior of the cell, a process known as endocytosis. In particular, they are involved in the endocytosis of damaged or unneeded proteins that need to be broken down (degraded) or recycled by the cell. ESCRTs help sort these proteins into structures called multivesicular bodies (MVBs), which deliver them to lysosomes. Lysosomes are compartments within cells that digest and recycle many different types of molecules.

Through its association with ESCRTs, STAM binding protein helps to maintain the proper balance of protein production and breakdown (protein homeostasis) that cells need to function and survive. Studies suggest that the interaction of STAM binding protein with ESCRTs is also involved in multiple chemical signaling pathways within cells, including pathways needed for overall growth and the formation of new blood vessels (angiogenesis).

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

microcephaly-capillary malformation syndrome - caused by mutations in the STAMBP gene

At least 13 mutations in the STAMBP gene have been identified in people with microcephaly-capillary malformation syndrome, an inherited disorder characterized by an abnormally small head size (microcephaly), profound developmental delay and intellectual disability, recurrent seizures (epilepsy), and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).

The known STAMBP gene mutations reduce or eliminate the production of STAM binding protein. This shortage allows damaged or unneeded proteins to build up inside cells instead of being degraded or recycled, which may damage cells and cause them to self-destruct (undergo apoptosis). Researchers suspect that abnormal apoptosis of brain cells starting before birth may cause microcephaly and the underlying brain abnormalities found in people with microcephaly-capillary malformation syndrome. A lack of STAM binding protein also alters multiple signaling pathways that are necessary for normal development, which may underlie the capillary malformations and other signs and symptoms of the condition.

Where is the STAMBP gene located?

Cytogenetic Location: 2p13.1

Molecular Location on chromosome 2: base pairs 73,828,915 to 73,867,167

The STAMBP gene is located on the short (p) arm of chromosome 2 at position 13.1.

The STAMBP gene is located on the short (p) arm of chromosome 2 at position 13.1.

More precisely, the STAMBP gene is located from base pair 73,828,915 to base pair 73,867,167 on chromosome 2.

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 STAMBP?

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

  • AMSH
  • associated molecule with the SH3 domain of STAM
  • endosome-associated ubiquitin isopeptidase
  • STABP_HUMAN
  • STAM-binding protein

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 STAMBP?

angiogenesis ; apoptosis ; autophagy ; breakdown ; capillaries ; cell ; cell membrane ; developmental delay ; disability ; domain ; endocytosis ; endosomes ; epilepsy ; gene ; homeostasis ; inherited ; malformation ; microcephaly ; molecule ; protein ; RAS ; receptor ; syndrome ; ubiquitin

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

References

  • Davies CW, Paul LN, Das C. Mechanism of recruitment and activation of the endosome-associated deubiquitinase AMSH. Biochemistry. 2013 Nov 5;52(44):7818-29. doi: 10.1021/bi401106b. Epub 2013 Oct 23. (http://www.ncbi.nlm.nih.gov/pubmed/24151880?dopt=Abstract)
  • Gene Review: Microcephaly-Capillary Malformation Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK174452)
  • McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31. (http://www.ncbi.nlm.nih.gov/pubmed/23542699?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10617)
  • Tsang HT, Connell JW, Brown SE, Thompson A, Reid E, Sanderson CM. A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. Genomics. 2006 Sep;88(3):333-46. Epub 2006 May 30. (http://www.ncbi.nlm.nih.gov/pubmed/16730941?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: February 2014
Published: October 20, 2014