DHX38 Chromosome 16
DEAH-box helicase 38
Upload your DNA to see your personal genotypes for variants in DHX38.
What This Gene Does
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 member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DEAH-box helicases
Locus Type
gene with protein product
Location
16q22.2
Ensembl
ENSG00000140829
Associated Conditions (4)
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 84
Autosomal recessive retinitis pigmentosa
Key Variants
RS143671341
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1470431287
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS202052654
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS760947148
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS761728672
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1597445687
Likely pathogenic
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS2144134187
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS2507105477
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS766053952
Likely pathogenic
Retinitis pigmentosa 84, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 84
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143671341 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS1470431287 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS202052654 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS760947148 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS761728672 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS1597445687 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2144134187 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2507105477 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS766053952 | Health Risk | Likely pathogenic | Retinitis pigmentosa 84, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 84 |