H/ACA ribonucleoprotein complex subunit 4; dyskerin; nucleolar protein family A member 4; snoRNP protein DKC1; Nopp140-associated protein of 57 kDa; nucleolar protein NAP57; CBF5 homolog (DKC1, NOLA4)

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Function

Structure

Compartment

Expression

Pathology

More general terms

Additional terms

Component of

References

  1. Heiss NS et al X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genetics 19:32-8, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9590285
  2. UniProt http://www.uniprot.org/uniprot/O60832.html
  3. DKC1base; Note: DKC1 mutation db http://bioinf.uta.fi/DKC1base/
  4. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/DKC1ID157.html
  5. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/DKC1

Database