RNU4-2

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

Iste gen coda le  U4, un essential componente del  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.Greene, D., Thys, C., Berry, I.R. , "Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders". Nat Med (2024. 

Mutationes del gen  (codante le proteina 4 de ligamen al ) causa alsi un splissosomopathia producente similar symptomas.Eden Engal, Kaisa Teele Oja, Reza Maroofian, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked , "Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome", AJHG (2023). 

Categoria:Gen
Categoria:Disordine neurologic