DHX9 Chromosome 1
DExH-box helicase 9
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What This Gene Does
This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
DEAH-box helicases
Locus Type
gene with protein product
Location
1q25.3
Ensembl
ENSG00000135829
Associated Conditions (5)
Intellectual developmental disorder
autosomal dominant 75
DHX9-related disorder
Charcot-Marie-Tooth disease
DHX9-related neurodevelopmental disorder
Key Variants
RS2526467788
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal dominant 75, DHX9-related disorder
Health Risk
RS2526370283
Likely pathogenic
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
Health Risk
RS2526439935
Likely pathogenic
Health Risk
RS2526439955
Likely pathogenic
DHX9-related neurodevelopmental disorder, DHX9-related neurodevelopmental disorder
Health Risk
RS2526402037
Pathogenic
Health Risk
RS2526377906
Pathogenic/Likely pathogenic
DHX9-related disorder, Intellectual developmental disorder, autosomal dominant 75
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2526467788 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, autosomal dominant 75, DHX9-related disorder |
| RS2526370283 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS2526439935 | Health Risk | Likely pathogenic | — |
| RS2526439955 | Health Risk | Likely pathogenic | DHX9-related neurodevelopmental disorder, DHX9-related neurodevelopmental disorder |
| RS2526402037 | Health Risk | Pathogenic | — |
| RS2526377906 | Health Risk | Pathogenic/Likely pathogenic | DHX9-related disorder, Intellectual developmental disorder, autosomal dominant 75 |