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Open Access Articles- Top Results for PHF6

PHF6

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Identifiers
SymbolsPHF6 ; BFLS; BORJ; CENP-31
External IDsOMIM300414 MGI1918248 HomoloGene12375 GeneCards: PHF6 Gene
RNA expression pattern
File:PBB GE PHF6 gnf1h00721 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez8429570998
EnsemblENSG00000156531ENSMUSG00000025626
UniProtQ8IWS0Q9D4J7
RefSeq (mRNA)NM_001015877NM_001290546
RefSeq (protein)NP_001015877NP_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.[1][2]

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.[2]

References

  1. ^ 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. PMID 12415272. doi:10.1038/ng1040. 
  2. ^ a b "Entrez Gene: PHF6 PHD finger protein 6". 

Further reading

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External links


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