FHL1

Four and a half LIM domain protein 1 ( FHL -1 short ), also Skeletal muscle LIM - protein 1 ( short or SLIM SLIM -1 ) is a protein that in the FHL1 gene ( " Four -and- a-half LIM domains 1 " ) gene is encoded. The gene is localized on the long arm of the X chromosome. The exact position is Xq26.3. In total there are three isoforms of the protein generated by alternative splicing and are each expressed in a number of different tissues and, including in skeletal muscle.

Four and a half LIM domains protein 1 has a total of four and a half LIM domains. In a LIM domain is a highly conserved double zinc finger domain, which consists of about 50 amino acids and is rich in cysteine. " LIM " is an acronym for three proteins in which these zinc finger domain or homeodomain also occurs: LIN11, ISL1 and Mec3 ( from Caenorhabditis elegans).

The function of the LIM proteins, including the FHL -1 is unclear. It is known that they are involved through interactions with other proteins in the cell nucleus to the tissue-specific gene regulation and in the cytoplasm in the organization of the cytoskeleton.

Medical importance

Overall, the first mutation was detected in FHL1 gene in 2008 more than 25 mutations in FHL -1 gene for detection. Four muscle diseases are associated with mutations in the FHL1 gene:

  • X - linked recessive muscular dystrophy skapuloperoneale
  • Reducing Body Myopathy (RBM )
  • X-linked myopathy with postural muscle atrophy ( XMPMA )

They are also known as FHL1 gene associated myopathy or as FHL1opathien.

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