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Phf6

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Phf6

PHD finger protein 6

Crystal structure of the second extended PHD domain of human PHF6 protein. PDB entry [1]
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; BFLS; BORJ; CENP-31
External IDs GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.[2][3] 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 transcriptional splice variants, encoding different isoforms, have been characterized.[3]

References

  1. ^ Liu, Z; Li, F; Ruan, K; Zhang, J; Mei, Y; Wu, J; Shi, Y (2014). "Structural and Functional Insights into the Human Borjeson-Forssman-Lehmann Syndrome Associated Protein PHF6". Journal of Biological Chemistry 289 (14): 10069–83.  
  2. ^ 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.  
  3. ^ a b "Entrez Gene: PHF6 PHD finger protein 6". 

Further reading

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