DHX34

DHX34 is a human gene that encodes for the protein DEAH (Asp-Glu-Ala-His) box polypeptide 34. This protein is a member of the DEAH-box protein family, which is characterized by the conserved motif Asp-Glu-Ala-His (DEAH). DEAH-box proteins are a subfamily of DEAD-box proteins, which are a group of proteins that are involved in various aspects of RNA metabolism, including transcription, splicing, translation, and ribosome assembly.

Function

The DHX34 protein is involved in the process of pre-mRNA splicing, a critical step in the process of gene expression. It is a component of the spliceosome, a large RNA-protein complex responsible for removing introns from pre-mRNA. The DHX34 protein is thought to play a role in the activation of the spliceosome.

Clinical Significance

Mutations in the DHX34 gene have been associated with a variety of human diseases. For example, a study published in 2018 found that mutations in DHX34 were associated with congenital heart defects. Another study published in 2019 found that mutations in DHX34 were associated with neurodevelopmental disorders.

See Also

• DEAH-box proteins
• DEAD-box proteins
• Pre-mRNA splicing
• Spliceosome

References

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