- PHF6
PHD finger protein 6, also known as PHF6, is a human
gene .cite web | title = Entrez Gene: PHF6 PHD finger protein 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84295| accessdate = ]PBB_Summary
section_title =
summary_text = This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.cite web | title = Entrez Gene: PHF6 PHD finger protein 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84295| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Nagase T, Nakayama M, Nakajima D, "et al." |title=Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=8 |issue= 2 |pages= 85–95 |year= 2001 |pmid= 11347906 |doi=
*cite journal | author=Lower KM, Turner G, Kerr BA, "et al." |title=Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. |journal=Nat. Genet. |volume=32 |issue= 4 |pages= 661–5 |year= 2003 |pmid= 12415272 |doi= 10.1038/ng1040
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Baumstark A, Lower KM, Sinkus A, "et al." |title=Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome. |journal=J. Med. Genet. |volume=40 |issue= 4 |pages= e50 |year= 2003 |pmid= 12676923 |doi=
*cite journal | author=Dattani MT |title=Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. |journal=J. Pediatr. Endocrinol. Metab. |volume=16 |issue= 9 |pages= 1207–9 |year= 2004 |pmid= 14714741 |doi=
*cite journal | author=Birrell G, Lampe A, Richmond S, "et al." |title=Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. |journal=J. Pediatr. Endocrinol. Metab. |volume=16 |issue= 9 |pages= 1295–300 |year= 2004 |pmid= 14714754 |doi=
*cite journal | author=Turner G, Lower KM, White SM, "et al." |title=The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. |journal=Clin. Genet. |volume=65 |issue= 3 |pages= 226–32 |year= 2004 |pmid= 14756673 |doi=
*cite journal | author=Lower KM, Solders G, Bondeson ML, "et al." |title=1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. |journal=Eur. J. Hum. Genet. |volume=12 |issue= 10 |pages= 787–9 |year= 2005 |pmid= 15241480 |doi= 10.1038/sj.ejhg.5201228
*cite journal | author=Vallée D, Chevrier E, Graham GE, "et al." |title=A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. |journal=J. Med. Genet. |volume=41 |issue= 10 |pages= 778–83 |year= 2005 |pmid= 15466013 |doi= 10.1136/jmg.2004.020370
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Andersen JS, Lam YW, Leung AK, "et al." |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77–83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207
*cite journal | author=Ross MT, Grafham DV, Coffey AJ, "et al." |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440
*cite journal | author=Crawford J, Lower KM, Hennekam RC, "et al." |title=Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. |journal=J. Med. Genet. |volume=43 |issue= 3 |pages= 238–43 |year= 2006 |pmid= 15994862 |doi= 10.1136/jmg.2005.033084
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026External links
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