WASH2P


Description

The WASH2P (WASP family homolog 2, pseudogene) is a pseudo gene located on chromosome 2.

WASH2P, located on chromosome 2, encodes a protein involved in actin cytoskeleton remodeling and vesicle trafficking, playing a vital role in cellular processes like endocytosis, phagocytosis, and cell migration. Mutations in WASH2P are linked to intellectual disability, developmental delay, and neurodevelopmental disorders.

WASH2P, also known as the Wiskott-Aldrich syndrome protein and Scar homolog 2, is a gene located on chromosome 2. It encodes a protein that plays a crucial role in actin cytoskeleton remodeling and vesicle trafficking. The WASH2P protein forms a complex with other proteins, including FAM21, Strumpellin, and the Arp2/3 complex, to regulate the formation and dynamics of actin filaments. This complex is essential for a variety of cellular processes, including endocytosis, phagocytosis, and cell migration. Mutations in WASH2P have been linked to various diseases, including intellectual disability, developmental delay, and neurodevelopmental disorders.

WASH2P is also known as FAM39B.

Associated Diseases



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