Biology:FHL1

From HandWiki
Short description: Mammalian protein found in humans


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Four and a half LIM domains protein 1 is a protein that in humans is encoded by the FHL1 gene.[1][2][3]

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.[3]

Role in muscle disorders

FHL1 has been shown to be heavily expressed in skeletal and cardiac muscles.[4] 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 least 15 disease-causing mutations in this gene have been discovered.[5] At present different research groups are using different terminology for these disorders, which include:

X-linked myopathy with postural muscle atrophy (XMPMA)
An adult-onset muscle disorder known to affect families in Austria and the UK.[6]
Reducing body myopathy (RBM)
A rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils. The effects of the disorder can be either severe, with onset of weakness at approximately five years, or adult onset, with weakness occurring in the late 20s, early 30s.[7]
Scapuloperoneal myopathy (SPM)
Another adult-onset muscle disorder, especially affecting the shoulder girdle and legs.[8]

References

  1. ↑ "Slim defines a novel family of LIM-proteins expressed in skeletal muscle". Biochemical and Biophysical Research Communications 225 (2): 632–8. Aug 1996. doi:10.1006/bbrc.1996.1222. PMID 8753811. 
  2. ↑ "Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1)". Gene 216 (1): 163–70. Aug 1998. doi:10.1016/S0378-1119(98)00302-3. PMID 9714789. 
  3. ↑ 3.0 3.1 "Entrez Gene: FHL1 four and a half LIM domains 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2273. 
  4. ↑ "Chromosomal mapping, tissue distribution and cDNA sequence of four-and-a-half LIM domain protein 1 (FHL1)". Gene 216 (1): 163–70. Aug 1998. doi:10.1016/S0378-1119(98)00302-3. PMID 9714789. 
  5. ↑ "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports 9 (1): 18577. December 2019. doi:10.1038/s41598-019-54976-4. PMID 31819097. Bibcode: 2019NatSR...918577S. 
  6. ↑ "An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1". American Journal of Human Genetics 82 (1): 88–99. Jan 2008. doi:10.1016/j.ajhg.2007.09.004. PMID 18179888. 
  7. ↑ "Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy". The Journal of Clinical Investigation 118 (3): 904–12. Mar 2008. doi:10.1172/JCI34450. PMID 18274675. 
  8. ↑ "X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1". American Journal of Human Genetics 82 (1): 208–13. Jan 2008. doi:10.1016/j.ajhg.2007.09.013. PMID 18179901. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



Retrieved from "https://handwiki.org/wiki/index.php?title=Biology:FHL1&oldid=3576603"