Aliases for FHL1 Gene
External Ids for FHL1 Gene
Previous GeneCards Identifiers for FHL1 Gene
This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]
GeneCards Summary for FHL1 Gene
FHL1 (Four And A Half LIM Domains 1) is a Protein Coding gene. Diseases associated with FHL1 include Myopathy, X-Linked, With Postural Muscle Atrophy and Scapuloperoneal Myopathy, X-Linked Dominant. Among its related pathways are Notch signaling pathway (KEGG) and Jak-STAT signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include ion channel binding. An important paralog of this gene is FHL2.
UniProtKB/Swiss-Prot for FHL1 Gene
May have an involvement in muscle development or hypertrophy.