RNU4-2

RNU4-2
	instantia de: small nuclear RNA[*], gen
	subclasse de: small nuclear RNA[*]
	;

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RNU4-2 es un gen non codante (que non coda un proteina) situate in chromosoma 12 human.

Iste gen coda le parve ARN nuclar (en) U4, un essential componente del splissosoma (en) major. snRNA U4 es un componente del parve ribonucleoproteina nuclear (snRNP) U4, un del cinque snRNP (U1, U2, U4, U5 e U6) que constitue le splissosoma major.

Tres variantes in duo regiones del gen son associate a neurodeveloppemental anormalitates causante un syndrome characterisate per intellectual disabilitate, microcephalia, parve talia, hypotonia, convulsiones e motor retardo.^[1]

Mutationes del gen WBP4 (en) (codante le proteina 4 de ligamen al dominio WW (en)) causa alsi un splissosomopathia producente similar symptomas.^[2]

Referentias

↑ Greene, D., Thys, C., Berry, I.R. et al., "Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders". Nat Med (2024. doi:10.1038/s41591-024-03085-5
↑ Eden Engal, Kaisa Teele Oja, Reza Maroofian, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked et al., "Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome", AJHG (2023). doi:10.1016/j.ajhg.2023.10.013

[1] Greene, D., Thys, C., Berry, I.R. et al., "Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders". Nat Med (2024. doi:10.1038/s41591-024-03085-5

[2] Eden Engal, Kaisa Teele Oja, Reza Maroofian, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked et al., "Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome", AJHG (2023). doi:10.1016/j.ajhg.2023.10.013

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