PHD finger protein 6 is aprotein that is encoded by thePHF6gene[5][6] in humans.
This gene is a member of theplant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two atypical PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus.[6]
Mutations affecting the coding region of this gene or the splicing of the transcript have been associated withBörjeson-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.[6]
ThePHF6 gene in humans is also frequently mutated in human hematological malignancies, includingT-cell acute lymphoblastic Leukemia (T-ALL)[7] andAcute Myeloid Leukemia (AML)[8] and at least two BFLS patients have developed leukemia or lymphoma.[9] PHF6 has been shown to be important for the regulation of blood stem and progenitor cells[10][11][12][13] and loss of PHF6 protein synergizes with over-expression of theTLX3 protein to cause lymphoid neoplasms.[11]
Dattani MT (December 2003). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene".Journal of Pediatric Endocrinology & Metabolism.16 (9):1207–9.doi:10.1515/jpem.2003.16.9.1207.PMID14714741.S2CID45542882.
Birrell G, Lampe A, Richmond S, Bruce SN, Gécz J, Lower K, et al. (December 2003). "Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency".Journal of Pediatric Endocrinology & Metabolism.16 (9):1295–300.doi:10.1515/jpem.2003.16.9.1295.PMID14714754.S2CID10327867.
Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, et al. (March 2004). "The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations".Clinical Genetics.65 (3):226–32.doi:10.1111/j.0009-9163.2004.00215.x.PMID14756673.S2CID24602739.
Lower KM, Solders G, Bondeson ML, Nelson J, Brun A, Crawford J, et al. (October 2004). "1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family".European Journal of Human Genetics.12 (10):787–9.doi:10.1038/sj.ejhg.5201228.PMID15241480.S2CID7327686.
