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 splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010].
Xiang, Wang, Xia, Chen: "The depletion of PHF6 decreases the drug sensitivity of T-cell acute lymphoblastic leukemia to prednisolone." in: Biomedicine & pharmacotherapy, Vol. 109, pp. 2210-2217, (2019) (PubMed).
Cheng, Deng, Ikeuchi, Yuede, Li, Rensing, Huang, Baldridge, Maloney, Dougherty, Constantino, Jahani-Asl, Wong, Wozniak, Wang, Klyachko, Bonni: "Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome." in: Cell reports, Vol. 25, Issue 6, pp. 1404-1414.e6, (2018) (PubMed).
Meacham, Lawton, Soto-Feliciano, Pritchard, Joughin, Ehrenberger, Fenouille, Zuber, Williams, Young, Hemann: "A genome-scale in vivo loss-of-function screen identifies Phf6 as a lineage-specific regulator of leukemia cell growth." in: Genes & development, Vol. 29, Issue 5, pp. 483-8, (2015) (PubMed).
Pontén, Jirström, Uhlen: "The Human Protein Atlas--a tool for pathology." in: The Journal of pathology, Vol. 216, Issue 4, pp. 387-93, (2008) (PubMed).
Aliases for PHF6 抗体
PHD finger protein 6 (phf6) 抗体 PHD finger protein 6 L homeolog (phf6.L) 抗体 PHD finger protein 6 (PHF6) 抗体 PHD finger protein 6 (Phf6) 抗体 2700007B13Rik 抗体 4931428F02Rik 抗体 BFLS 抗体 BORJ 抗体 CENP-31 抗体 mKIAA1823 抗体 wu:fa22g03 抗体 zgc:55403 抗体