Species Human Entrez 2273 | Human Mouse Ensembl ENSG00000022267 | |
Aliases FHL1, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA, RBMX1A, RBMX1B, four and a half LIM domains 1 External IDs MGI: 1298387 HomoloGene: 31038 GeneCards: FHL1 |
Four and a half LIM domains protein 1 is a protein that in humans is encoded by the FHL1 gene.
Contents
Structure
LIM proteins, named for 'LIN11, ISL1, and MEC3,' are defined by the possession of a highly conserved double zinc finger motif called the LIM domain.
Role in muscle disorders
FHL1 has been shown to be heavily expressed in skeletal and cardiac muscles. In 2008 this was borne out by the discovery that defects in the FHL1 gene are responsible for a number of Muscular dystrophy-like muscle disorders, ranging from severe, childhood onset diseases through to adult-onset disorders similar to Limb girdle muscular dystrophy. At present different research groups are using different terminology for these disorders, which include:
References
FHL1 Wikipedia(Text) CC BY-SA