SNORA14B

Chr 1

small nucleolar RNA, H/ACA box 14B

Also known as: ACA14b

NCBI Gene: 677802 ENSG00000207181

This gene encodes a small nucleolar RNA that guides pseudouridylation of 18S ribosomal RNA at position U966, which is essential for ribosome function and protein synthesis. Mutations cause Prader-Willi-like syndrome with intellectual disability, hypotonia, feeding difficulties in infancy, and subsequent hyperphagia and obesity. The condition follows an autosomal dominant inheritance pattern with early childhood onset of developmental delays and feeding abnormalities.

ResearchSummary from RefSeq

Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 7. [provided by RefSeq, Oct 2008]

ResearchGenerating clinical summary…

Clinical Summary— SNORA14B

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