DIS3L2
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
[edit]Mutations in DIS3L2 cause Perlman syndrome.[6]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000144535 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000053333 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: DIS3 mitotic control homolog (S. cerevisiae)-like 2". Retrieved 2013-03-10.
- ↑ "OMIM Entry - # 267000 - PERLMAN SYNDROME; PRLMNS". www.omim.org. Retrieved 2020-01-25.
Further reading
[edit]
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