DHX30 gene

DExH-box helicase 30

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

From UniProt:

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

From NCBI Gene:

  • NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31

Molecular Location: base pairs 47,802,909 to 47,850,196 on chromosome 3 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31
  • DDX30
  • NEDMIAL
  • RETCOR