4nn2

Structural highlights

Disease

[PHF6_HUMAN] Borjeson-Forssman-Lehmann syndrome. The disease is caused by mutations affecting the gene represented in this entry.

Function

[PHF6_HUMAN] Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.^[1]

References

1. ↑ Wang J, Leung JW, Gong Z, Feng L, Shi X, Chen J. PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis. J Biol Chem. 2013 Feb 1;288(5):3174-83. doi: 10.1074/jbc.M112.414839. Epub 2012, Dec 10. PMID:23229552 doi:http://dx.doi.org/10.1074/jbc.M112.414839