Literature summary for 4.6.1.19 extracted from

Haud, N.; Kara, F.; Diekmann, S.; Henneke, M.; Willer, J.R.; Hillwig, M.S.; Gregg, R.G.; Macintosh, G.C.; Gaertner, J.; Alia, A.; Hurlstone, A.F.
rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA (2011), Proc. Natl. Acad. Sci. USA, 108, 1099-1103.

Search for more literature for 4.6.1.19

Cloned(Commentary)

Cloned (Comment)	Organism
sequencing of a positional candidate zgc:113369, equivalent to rnaset2, expresison of myc-tagged wild-type and mutants in HEK-293 cells, phenotypes, overview	Danio rerio

Protein Variants

Protein Variants	Comment	Organism
C184R	RNASET2C184R, harboring a missense mutation as identified from a patient with cystic leukoencephalopathy, signal is retained within the endoplasmic reticulum	Danio rerio
T304A	naturally occuring mutation, inactivce mutant AO127. A mutation within codon 118 of the rnaset2 ORF creates a premature stop codon truncating the protein before its second conserved catalytic site, CAS II, resulting in loss of essential catalytic residues and results in a dramatic down-regulation of the rnaset2 messenger RNA	Danio rerio

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining

Organism

Organism	UniProt	Comment	Textmining
Danio rerio	-	gene RNASET2	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
brain	-	Danio rerio	-
additional information	rnaset2 is expressed ubiquitously in zebrafish embryos and adults from conception	Danio rerio	-
neuron	-	Danio rerio	-

Synonyms

Synonyms	Comment	Organism
RNase T2	-	Danio rerio

General Information

General Information	Comment	Organism
malfunction	loss of rnaset2 in mutant zebrafish results in accumulation of undigested rRNA within lysosomes within neurons of the brain, the mutants show white matter lesions correlating with accumulation of amyloid precursor protein and astrocytes at sites of neurodegeneration	Danio rerio

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)