Aliases for FERMT1 Gene
External Ids for FERMT1 Gene
Previous HGNC Symbols for FERMT1 Gene
Previous GeneCards Identifiers for FERMT1 Gene
This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
GeneCards Summary for FERMT1 Gene
FERMT1 (Fermitin Family Member 1) is a Protein Coding gene. Diseases associated with FERMT1 include Kindler Syndrome and Hereditary Acrokeratotic Poikiloderma, Weary Type. Among its related pathways are Cytoskeletal Signaling and Adhesion. An important paralog of this gene is FERMT2.
UniProtKB/Swiss-Prot for FERMT1 Gene
Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression.