ATP-dependent RNA helicase DHX30

Definition:

RNA-dependent helicase. Plays an important role in the assembly of the mitochondrial large ribosomal subunit. Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA. Involved in nervous system development and differentiation through its involvement in the up-regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD (By similarity).

References:

[1]. Daniel F Bogenhagen, et al. The layered structure of human mitochondrial DNA nucleoids. J Biol Chem. 2008 Feb 8;283(6):3665-3675. [Content Brief]

[2]. Hana Antonicka, et al. Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis. Cell Rep. 2015 Feb 17;10(6):920-932. [Content Brief]

[3]. Davor Lessel, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 Nov 2;101(5):716-724. [Content Brief]

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