Ligand-dependent nuclear receptor-interacting factor 1

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An Error has occurred retrieving Wikidata item for infobox Ligand-dependent nuclear receptor-interacting factor 1 (LRIF1) also known as receptor-interacting factor 1 (RIF1) is a protein that in humans is encoded by the LRIF1 gene.[1][2] LRIF1 has been shown to interact with SMCHD1 protein, mutation of which causes facioscapulohumeral muscular dystrophy type 2 (FSHD2).[3] Mutation of LRIF1 itself has also been implicated in FSHD2.[3]

References

  1. Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  2. "Entrez Gene: C1orf103 chromosome 1 open reading frame 103".
  3. 3.0 3.1 Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, et al. (May 2020). "LRIF1 associated with facioscapulohumeral muscular dystrophy". Neurology. 94 (23): e2441–e2447. doi:10.1212/WNL.0000000000009617. PMC 7455367. PMID 32467133.

Further reading