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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

FRRS1L  -  ferric-chelate reductase 1-like

Homo sapiens

Synonyms: Brain protein CG-6, C9orf4, CG-6, CG6, DOMON domain-containing protein FRRS1L, ...
 
 
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High impact information on C9orf4

  • In cell-free extracts prepared from rodent CGs 1-5 and 11, but not in a mutant from CG6, we find an impaired repair of damage induced in plasmids by UV light and N-acetoxy-acetylaminofluorene [1].
  • This hypothesis is further supported by correlations between certain complementation groups and particular type-3 subphenotypes: all patient cell lines belonging to CG3 and CG10 showed a complete absence of peroxisomal matrix protein import while those from CG6, CG7, and CG8 imported some peroxisomal matrix proteins [2].
  • These results showed that administration of hCG 6 days after estrus improved the pregnancy rate for non-surgical frozen embryo transfer 7 days after estrus by enhancing luteal function and depressing E2 secretion [3].
  • Expression of PEX6 restored peroxisome assembly in fibroblasts from a CG6 PBD patient [4].

References

  1. Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F. van Vuuren, A.J., Appeldoorn, E., Odijk, H., Yasui, A., Jaspers, N.G., Bootsma, D., Hoeijmakers, J.H. EMBO J. (1993) [Pubmed]
  2. Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders. Slawecki, M.L., Dodt, G., Steinberg, S., Moser, A.B., Moser, H.W., Gould, S.J. J. Cell. Sci. (1995) [Pubmed]
  3. Improvement of pregnancy rate in Japanese Black cows by administration of hCG to recipients of transferred frozen-thawed embryos. Nishigai, M., Kamomae, H., Tanaka, T., Kaneda, Y. Theriogenology (2002) [Pubmed]
  4. The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. Matsumoto, N., Tamura, S., Moser, A., Moser, H.W., Braverman, N., Suzuki, Y., Shimozawa, N., Kondo, N., Fujiki, Y. J. Hum. Genet. (2001) [Pubmed]
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