DDX23 Chromosome 12
DEAD-box helicase 23
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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 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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"DEAD-box helicases|U5 small nuclear ribonucleoprotein"
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000174243
Associated Conditions (7)
Abnormal facial shape
Fetal growth restriction
Motor delay
Failure to thrive
Inborn genetic diseases
Neurodevelopmental disorder
Congenital bilateral perisylvian syndrome
Key Variants
RS1938372282
Conflicting classifications of pathogenicity
Health Risk
RS1938405472
Conflicting classifications of pathogenicity
Abnormal facial shape, Fetal growth restriction, Motor delay
Health Risk
RS747067894
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2137479869
Likely pathogenic
Health Risk
RS2137480864
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2498746301
Likely pathogenic
Congenital bilateral perisylvian syndrome, Congenital bilateral perisylvian syndrome
Health Risk
RS2137479865
Pathogenic
Health Risk
RS2498750238
Pathogenic
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1938372282 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1938405472 | Health Risk | Conflicting classifications of pathogenicity | Abnormal facial shape, Fetal growth restriction, Motor delay |
| RS747067894 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2137479869 | Health Risk | Likely pathogenic | — |
| RS2137480864 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2498746301 | Health Risk | Likely pathogenic | Congenital bilateral perisylvian syndrome, Congenital bilateral perisylvian syndrome |
| RS2137479865 | Health Risk | Pathogenic | — |
| RS2498750238 | Health Risk | Pathogenic | — |