Abstract :
Homo sapiens C/D box snoRNA U96b. This snoRNA was identified by Vitali et al. (2003) as a close paralogue of U96a (see this entry). It is encoded in an intron of the AMMECR1 gene. This gene is located on chrXq23 and is potentially involved in the pathogenesis of the Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis (OMIM%300195). However, the mouse orthologous gene does not contain sequences similar to that of U96. Both U96a and U96b are predicted to guide the 2'O-ribose methylation of 5.8S rRNA G75.