Ribonuclease T2 (RNASET2) ELISA Kit for Duck

RNASET2: Has ribonuclease activity, with higher activity at acidic pH. May play a role in cellular RNA catabolism. Defects in RNASET2 are the cause of leukoencephalopathy cystic without megalencephaly (LCWM). An infantile- onset syndrome of cerebral leukoencephalopathy. Affected newborns develop microcephaly and neurologic abnormalities including psychomotor impairment, seizures and sensorineural hearing impairment. The brain shows multifocal white matter lesions, anterior temporal lobe subcortical cysts, pericystic abnormal myelination, ventriculomegaly and intracranial calcifications. Belongs to the RNase T2 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Ribonuclease; Secreted; EC 3.1.27.-; Secreted, signal peptide; RNA-binding

Chromosomal Location of Human Ortholog: 6q27

Cellular Component: lysosomal lumen; extracellular space; lysosome; endoplasmic reticulum lumen; extracellular region

Molecular Function: ribonuclease T2 activity; RNA binding; ribonuclease activity

Biological Process: RNA catabolic process

Disease: Leukoencephalopathy, Cystic, Without Megalencephaly