Biology:MATR3

From HandWiki
Short description: Mammalian protein found in Homo sapiens


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

Matrin-3 is a protein that in humans is encoded by the MATR3 gene.[1][2]

Function

The protein encoded by this gene is localized in the nuclear matrix. It may play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. Two transcript variants encoding the same protein have been identified for this gene.[2]

Pathology

Mutations in the Matrin 3 gene are associated with familial amyotrophic lateral sclerosis.[3]

References

  1. "Molecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain". J Biol Chem 266 (15): 9893–9. Jun 1991. doi:10.1016/S0021-9258(18)92902-9. PMID 2033075. 
  2. 2.0 2.1 "Entrez Gene: MATR3 matrin 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9782. 
  3. "Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis". Nat. Neurosci. 17 (5): 664–6. 2014. doi:10.1038/nn.3688. PMID 24686783. 

Further reading