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PHF6 GenePHD finger protein 6 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 cognitive disability, 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] |
BL5829 (PHF6) Gene Setproteins in the BL5829 (PHF6) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset. |
phf6 Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term phf6 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
PHF6 Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for PHF6 from the Pathway Commons Protein-Protein Interactions dataset. |
PHF6 Gene SetFrom CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the PHF6 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas. |