The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 4 - 8 µg/ml.
Use a concentration of 1.25 µg/ml. Detects a band of approximately 63 kDa (predicted molecular weight: 69 kDa). Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Use at an assay dependent concentration.
ELISA titre using peptide based assay: 1/62500.
Ribonuclease that plays a critical role in RNA metabolism. It is essential for correct mitosis, and negatively regulates cell proliferation.
Involvement in 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 V-shaped 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.
Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections) analysis of human heart tissue labelling DIS3L2 with ab50848 at 4-8µg/ml. Arrows indicate positively stained human myocardial cells. Magnification: 400X.