DHX30

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Description

The DHX30 (DExH-box helicase 30) is a protein-coding gene located on chromosome 3.

DHX30 is an RNA-dependent helicase that plays a vital role in the assembly of the mitochondrial large ribosomal subunit. It is essential for optimal function of the antiviral protein ZC3HAV1 and associates with mitochondrial DNA. DHX30 contributes to nervous system development and differentiation by up-regulating genes required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD.

DHX30 is also known as DDX30, NEDMIAL, RETCOR.

Associated Diseases

• Neurodevelopmental disorder with severe motor impairment and absent language