Probable ATP-dependent RNA helicase DHX37

Definition:

ATP-binding RNA helicase that plays a role in maturation of the small ribosomal subunit in ribosome biogenesis. Required for the release of the U3 snoRNP from pre-ribosomal particles. Plays a role in early testis development. Probably also plays a role in brain development.

References:

[1]. Ingrid Paine, et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 Aug 1;105(2):302-316. [Content Brief]

[2]. Priyanka Choudhury, et al. The human RNA helicase DHX37 is required for release of the U3 snoRNP from pre-ribosomal particles. RNA Biol. 2019 Jan;16(1):54-68. [Content Brief]

[3]. Thatiana Evilen da Silva, et al. Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5923-5934. [Content Brief]

[4]. Ken McElreavey, et al. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genet Med. 2020 Jan;22(1):150-159. [Content Brief]

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