PHD finger protein 6 is a protein that in humans is encoded by the PHF6gene.[1][2]
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 Börjeson-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.[2]
References
↑Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gecz J (Nov 2002). "Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome". Nat Genet. 32 (4): 661–665. doi:10.1038/ng1040. PMID12415272.
Nagase T, Nakayama M, Nakajima D, et al. (2001). "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". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID11347906.
Dattani MT (2004). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". J. Pediatr. Endocrinol. Metab. 16 (9): 1207–9. doi:10.1515/jpem.2003.16.9.1207. PMID14714741.
Birrell G, Lampe A, Richmond S, et al. (2004). "Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency". J. Pediatr. Endocrinol. Metab. 16 (9): 1295–300. PMID14714754.
Turner G, Lower KM, White SM, et al. (2004). "The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations". Clin. Genet. 65 (3): 226–232. doi:10.1111/j.0009-9163.2004.00215.x. PMID14756673.
Lower KM, Solders G, Bondeson ML, et al. (2005). "1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family". Eur. J. Hum. Genet. 12 (10): 787–789. doi:10.1038/sj.ejhg.5201228. PMID15241480.
