FHL3
FHL3 (Four and a half LIM domains 3) is a protein that in humans is encoded by the FHL3 gene. It is a member of the Four and a half LIM domains protein family, which is a group of proteins characterized by the presence of four LIM domains and an additional half LIM domain.
Function[edit | edit source]
FHL3 is a cytosolic protein that may be involved in specific cytoskeletal structures. This protein binds to the Rho family of GTPases, and may stimulate Rho-dependent signal transduction pathways. It is involved in the organization of actin filaments and in cell shape and motility.
Clinical significance[edit | edit source]
Mutations in the FHL3 gene have been associated with reducing the risk of developing muscular dystrophy, specifically X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD).
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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