What is the function of the WASP protein?
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What is the function of the WASP protein?
Wiskott-Aldrich syndrome protein (WASP) is an important regulator of the actin cytoskeleton that is required for many hematopoietic and immune cell functions, including cytoskeletal reorganization, immune synapse formation, and intracellular signaling.
What is wiskott-aldrich syndrome?
Wiskott-Aldrich syndrome is a rare genetic disorder of the immune system that primarily affects boys. It is characterized by abnormal immune function and a reduced ability to form blood clots.
What are the symptoms of Wiskott-Aldrich syndrome?
What are the symptoms of Wiskott-Aldrich syndrome?
- frequent and easy bleeding that can occur:
- from the nose.
- from the mouth and gums.
- in bowel movements.
- frequent and easy bruising.
- a small red rash consisting of “dots” under the skin (these are called petechiae)
- chronic infections.
- eczema (atopic dermatitis)
How is Wiskott-Aldrich syndrome inherited?
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell.
What is the work of gelsolin?
Gelsolin is an abundant actin binding protein that mediates the rapid remodeling of cortical actin filaments through severing, capping, and nucleating activities.
WAS Wiskott-Aldrich syndrome a protein?
The Wiskott–Aldrich Syndrome protein (WASp) is a 502-amino acid protein expressed in cells of the hematopoietic system that in humans is encoded by the WAS gene. In the inactive state, WASp exists in an autoinhibited conformation with sequences near its C-terminus binding to a region near its N-terminus.
How is Wiskott-Aldrich diagnosed?
Testing and diagnosis for Wiskott-Aldrich syndrome
- Specialized blood tests, to check your child’s platelet count and determine platelet size.
- Other blood testing of the immune system, to check immune cell counts and immune protein levels, also known as immunoglobulins.
Why is it called Wiskott-Aldrich syndrome?
Wiskott-Aldrich syndrome is named after two physicians who originally described the condition. In 1937, Alfred Wiskott, a German pediatrician, first described three brothers who had chronic bloody diarrhea, eczema, and recurrent ear infections.
Why is IgE and IGA increased in Wiskott-Aldrich syndrome?
Increased IgE levels in IPEX, Wiskott-Aldrich syndrome and Omenn syndrome are likely related to increased T(H)2 cytokine production caused by decreased a number or function of CD4(+)CD25(+)forkhead box protein P3(+) regulatory T cells.
Can females have Wiskott-Aldrich syndrome?
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by immunodeficiency, eczema, and thrombocytopenia with small platelets. The phenotype of affected males is usually severe, although female carriers of the disorder have no clinical signs of the genetic defect.
Why is gelsolin important?
The intracellular gelsolin is involved in cell motility regulating actin function, whereas extracellular gelsolin can act as an actin-scavenging system to prevent the polymerization of actin released after cell death.
What should patient avoid while taking Gelusil?
What should I avoid while taking Gelusil? This medicine can make it harder for your body to absorb other medicines, especially certain antibiotics. Avoid taking any other medicine within 2 hours before or 2 hours after you take Gelusil.
What is WASP gene?
Normal Function. Collapse Section. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell’s structural framework.
What is Chediak Higashi?
Chediak-Higashi syndrome (CHS; MIM #214500) is a rare, autosomal-recessive disorder characterized by recurrent bacterial infections including pyogenic infections, oculocutaneous albinism that is present to a variable extent, progressive neurologic abnormalities, mild coagulation defects, and a high risk of developing …
