PHF6

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PHD finger protein 6
4nn2.png
Crystal structure of the second extended PHD domain of human PHF6 protein. PDB entry 4nn2[1]
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PHF6 ; BFLS; BORJ; CENP-31
External IDs OMIM300414 MGI1918248 HomoloGene12375 GeneCards: PHF6 Gene
RNA expression pattern
PBB GE PHF6 gnf1h00721 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 84295 70998
Ensembl ENSG00000156531 ENSMUSG00000025626
UniProt Q8IWS0 Q9D4J7
RefSeq (mRNA) NM_001015877 NM_001290546
RefSeq (protein) NP_001015877 NP_001277475
Location (UCSC) Chr X:
133.51 – 133.56 Mb
Chr X:
52.91 – 52.96 Mb
PubMed search [1] [2]

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[edit]

  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. doi:10.1074/jbc.M113.535351. PMID 24554700.  edit
  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. doi:10.1038/ng1040. PMID 12415272. 
  3. ^ a b "Entrez Gene: PHF6 PHD finger protein 6". 

Further reading[edit]

External links[edit]


This article incorporates text from the United States National Library of Medicine, which is in the public domain.