background:
The exosome is a multisubunit complex composed of several highly conserved subunits, some of which are 3’ to 5’ exoribonucleases. The complex is involved in a variety of cellular processes and is responsible for degrading unstable mRNAs that contain AU-rich (ARE) elements in their untranslated 3’ region. DIS3L2 (DIS3-like exonuclease 2) is an 885 amino acid protein that is thought to function as an exonuclease and may be required for the 3’ processing of pre-mRNA into mature mRNA. Defects or chromosomal translocations involving the gene encoding DIS3L2 may be associated with Marfanoid habitus, a genetic disorder characterized by abnormalities in the skeleton, eyes and cardiovascular system. DIS3L2 is expressed as five isoforms due to alternative splicing events.
Function:
Ribonuclease that plays a critical role in RNA metabolism. It is essential for correct mitosis, and negatively regulates cell proliferation.
Subcellular Location:
Cytoplasm.
DISEASE:
Defects in DIS3L2 are the cause of Perlman syndrome (PRLMNS) [MIM:267000]. An autosomal recessive congenital overgrowth syndrome. Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted SLVshaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor. Histologic examination of the kidneys in affected children shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor.
Similarity:
Belongs to the RNR ribonuclease family.
Database links:
Entrez Gene: 129563 Human
Entrez Gene: 208718 Mouse
Entrez Gene: 367307 Rat
Omim: 614184 Human
SwissProt: Q8IYB7 Human
SwissProt: Q8CI75 Mouse
Unigene: 732236 Human
Unigene: 389152 Mouse
Unigene: 2940 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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