Gene: DDX23

Alternate names for this Gene: PRPF28|SNRNP100|U5-100K|U5-100KD|prp28

Gene Summary: This gene encodes a member of the DEAD box protein family. 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. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.12

Description of this Gene: DEAD-box helicase 23

Type of Gene: protein-coding

rs11551274 in DDX23 gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs17123349 in DDX23 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.