DHX30

Function

RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578). 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).

Involvement in disease

Neurodevelopmental disorder with variable motor and language impairment

NEDMIAL

An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, speech impairment and gait abnormalities.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Isoform 2

Phosphorylated on Ser-15.

Sequence Similarities

Belongs to the DEAD box helicase family. DEAH subfamily.

Cellular localization

• Cytoplasm
• Mitochondrion
• Mitochondrion matrix
• Mitochondrion nucleoid
• Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids (PubMed:16825194, PubMed:25683715). Relocalizes to stress granules upon heat stress (PubMed:29100085).

Alternative names

DDX30, KIAA0890, DHX30, ATP-dependent RNA helicase DHX30, DEAH box protein 30

Database links

swissprot:Q7L2E3 entrezGene:22907 swissprot:Q7L2E3-2 genbank:NM_138614