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