Summary:

NameDubowitz-like Syndrome (C:m5C)
DescriptionIn patient cells, a functional NSUN2 protein is lacking. NSUN2-depletion causes growth retardation, mild microcephaly, and learning disabilities.
Related RNA reactionC:m5C
Found in RNAtRNA
Modified Transcriptaspartate tRNA
Mapping TechnologyWhole-exome sequencing
Quantification techniquesqRT-PCR

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
NSUN2 NOP2/Sun RNA methyltransferase 2 None Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
1010 Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. Fernando Jose Martinez J Med Genet [details] 22577224 10.1136/jmedgenet-2011-100686

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