NSUN5

Chr 7

NOP2/Sun RNA methyltransferase 5

Also known as: NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1)

NCBI Gene: 55695 ENSG00000130305 UniProt: Q96P11 OMIM: 615732

This protein is a methyltransferase that specifically methylates cytosine in 28S ribosomal RNA to promote protein translation and is required for corpus callosum and cerebral cortex development. Biallelic mutations cause autosomal recessive intellectual disability with corpus callosum abnormalities and cortical malformations. The gene is extremely intolerant to loss-of-function variants (pLI near 1), indicating that heterozygous loss alone is likely damaging, though disease manifestation requires biallelic variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.30

LOEUF

Mechanism· predicted