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.
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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.