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FHL1

Tuesday 5 February 2008

LIM proteins (LIMs), named for ’LIN11, ISL1, and MEC3,’ are defined by the possession of a highly conserved double zinc finger motif called the LIM domain.

FHL1 and an isoform, FHL1C, are highly expressed in skeletal muscle and may contribute to stability of sarcomeres and sarcolemma, myofibrillary assembly, and transcriptional regulation.

Pathology

- germline mutations of FHL1 in scapuloperoneal syndrome (SP syndrome)

  • Scapuloperoneal (SP) syndrome encompasses heterogeneous neuromuscular disorders characterized by weakness in the shoulder-girdle and peroneal muscles.

References

- Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, CamaƱo P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008 Jan;82(1):208-13. PMID: 18179901