DHX16

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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Two transcript variants encoding different isoforms have been found for this gene.

Full Name

DEAH (Asp-Glu-Ala-His) box polypeptide 16

Function

Required for pre-mRNA splicing as component of the spliceosome (PubMed:20423332, PubMed:20841358, PubMed:25296192, PubMed:29360106).

Contributes to pre-mRNA splicing after spliceosome formation and prior to the first transesterification reaction.

Biological Process

mRNA splicing, via spliceosome Source: UniProtKB
RNA splicing Source: ProtInc

Cellular Location

Nucleus; Nucleoplasm

Involvement in disease

Neuromuscular oculoauditory syndrome (NMOAS):
An autosomal dominant neuromuscular disorder characterized by variable features including myopathy, neuropathy, hypotonia, joint contractures, growth delay, chorioretinal lacunae, sensorineuronal deafness, agenesis of the corpus callosum, and seizures.