The WASHC5 gene provides instructions for making a protein called strumpellin. Strumpellin is active (expressed) throughout the body. The strumpellin protein has a repeating segment called the spectrin repeat that appears to interact with the structural framework inside cells (the cytoskeleton). Spectrin repeats are found in many different proteins and play an important role in cell structure and cell communication.
Strumpellin binds to other proteins to form the WASH complex, which is involved in the control of actin proteins. Actin proteins serve many functions within the cell, such as forming a network that provides structural support and transporting molecules within the cell. The WASH complex works with actin proteins to regulate the activity of endosomes, which are structures inside the cell that are involved in sorting, transporting, and recycling proteins and other materials.
Other Names
KIAA0196; RTSC; RTSC1; SPG8
Related Genetics Topics
Identifiers
- NCBI Gene: 9897
- OMIM: 610657
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
