FYVE, RhoGEF, and PH domain-containing proteins

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A family of proteins containing zinc fingers, GDP-exchange proteins involved in regulating actin-based motility. For example, FYVE, RhoGEF, and PH domain-containing protein-1 (FGD1, faciogenital dysplasia 1 protein, 961 aa) catalyses the replacement of GDP by GTP on the rho family GTPase, cdc42 and has a role in regulating the actin cytoskeleton and cell shape. Mutations in FGD1 are involved in faciogenital dysplasia (Aarskog–Scott syndrome). FGD4 (FGD1-related F-actin-binding protein, frabin, 766 aa) has an additional actin-binding domain and when overexpressed in vitro, induces microspike formation FGD4 is thought to be is important in myelination of the peripheral nervous system; defects are the cause of Charcot–Marie–Tooth disease type 4H. There are at least four other members of the family.

Subjects: Medicine and Health.

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