DDX54 Chromosome 12
DEAD-box helicase 54
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What This Gene Does
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 nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"DEAD-box helicases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q24.13
Ensembl
ENSG00000123064
Associated Conditions (8)
Multiple renal cysts
Reduced renal corticomedullary differentiation
Renal hypoplasia
Neurodevelopmental disorders
DDX54-related disorder
Neurodevelopmental delay
Seizure
Intellectual disability
Key Variants
RS148961522
Conflicting classifications of pathogenicity
Multiple renal cysts, Reduced renal corticomedullary differentiation, Renal hypoplasia
Health Risk
RS1593005589
Conflicting classifications of pathogenicity
Neurodevelopmental delay, Seizure, Intellectual disability
Health Risk
RS764707570
Likely pathogenic
Neurodevelopmental disorders, Neurodevelopmental delay, Seizure
Health Risk
RS774035439
Likely pathogenic
Intellectual disability, Neurodevelopmental delay, Neurodevelopmental disorders
Health Risk
RS777276705
Likely pathogenic
Neurodevelopmental delay, Intellectual disability, Neurodevelopmental disorders
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148961522 | Health Risk | Conflicting classifications of pathogenicity | Multiple renal cysts, Reduced renal corticomedullary differentiation, Renal hypoplasia |
| RS1593005589 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental delay, Seizure, Intellectual disability |
| RS764707570 | Health Risk | Likely pathogenic | Neurodevelopmental disorders, Neurodevelopmental delay, Seizure |
| RS774035439 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental delay, Neurodevelopmental disorders |
| RS777276705 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Intellectual disability, Neurodevelopmental disorders |