Gene Symbol: Phf6
Description: PHD finger protein 6
Alias: 2700007B13Rik, 4931428F02Rik, mKIAA1823, PHD finger protein 6
Lower K, Turner G, Kerr B, Mathews K, Shaw M, Gedeon A, et al
. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nat Genet. 2002;32:661-5 pubmed
..Among these, a novel, widely expressed zinc-finger (plant homeodomain (PHD)-like finger) gene (PHF6) had eight different missense and truncation mutations in seven familial and two sporadic cases of BFLS...
Zhang C, Mejia L, Huang J, Valnegri P, Bennett E, Anckar J, et al
. The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain. Neuron. 2013;78:986-93 pubmed publisher
Intellectual disability is a prevalent disorder that remains incurable. Mutations of the X-linked protein PHF6 cause the intellectual disability disorder Börjeson-Forssman-Lehmann syndrome (BFLS)...
Franzoni E, Booker S, Parthasarathy S, Rehfeld F, Grosser S, Srivatsa S, et al
. miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6. elife. 2015;4: pubmed publisher
..We show that Phf6, a gene mutated in the cognitive disorder BÃ¶rjeson-Forssman-Lehmann syndrome, is an important regulatory target ..
Voss A, Gamble R, Collin C, Shoubridge C, Corbett M, Gecz J, et al
. Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. Gene Expr Patterns. 2007;7:858-71 pubmed
The Plant homeodomain finger gene 6 (PHF6) was identified as the gene mutated in patients suffering from the Börjeson-Forssman-Lehmann Syndrome (BFLS), an X-linked mental retardation disorder...
Mavrakis K, Van der Meulen J, Wolfe A, Liu X, Mets E, Taghon T, et al
. A cooperative microRNA-tumor suppressor gene network in acute T-cell lymphoblastic leukemia (T-ALL). Nat Genet. 2011;43:673-8 pubmed publisher
..tumor suppressor genes implicated in the pathogenesis of T-ALL, including IKAROS (also known as IKZF1), PTEN, BIM, PHF6, NF1 and FBXW7...
Soto Feliciano Y, Bartlebaugh J, Liu Y, Sanchez Rivera F, Bhutkar A, Weintraub A, et al
. PHF6 regulates phenotypic plasticity through chromatin organization within lineage-specific genes. Genes Dev. 2017;31:973-989 pubmed publisher
..Here, we describe the function of the plant homeodomain finger protein 6 (PHF6) in leukemia and define its role in regulating chromatin accessibility to lineage-specific transcription factors...