DIS3 mitotic control homolog (S. cerevisiae)-like 2 is a protein in humans that is encoded by the DIS3L2 gene.[5] The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012].

Clinical significance

Mutations in DIS3L2 cause Perlman syndrome.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144535 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053333 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: DIS3 mitotic control homolog (S. cerevisiae)-like 2". Retrieved 2013-03-10.
  6. ^ "OMIM Entry - # 267000 - PERLMAN SYNDROME; PRLMNS". www.omim.org. Retrieved 2020-01-25.

Further reading