SMG8 Chromosome 17
SMG8 nonsense mediated mRNA decay factor
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What This Gene Does
Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay and regulation of protein kinase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
SMG1 complex
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000167447
Associated Conditions (1)
Alzahrani-Kuwahara syndrome
Key Variants
RS1277270999
Likely pathogenic
Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
Health Risk
RS2147863799
Pathogenic
Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
Health Risk
RS2147863904
Pathogenic
Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
Health Risk
RS2546573344
Pathogenic
Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
Health Risk
RS2546573732
Pathogenic
Health Risk
RS2546574489
Pathogenic
Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
Health Risk
RS755161625
Pathogenic
Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
Health Risk
RS765683395
Pathogenic
Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1277270999 | Health Risk | Likely pathogenic | Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome |
| RS2147863799 | Health Risk | Pathogenic | Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome |
| RS2147863904 | Health Risk | Pathogenic | Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome |
| RS2546573344 | Health Risk | Pathogenic | Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome |
| RS2546573732 | Health Risk | Pathogenic | — |
| RS2546574489 | Health Risk | Pathogenic | Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome |
| RS755161625 | Health Risk | Pathogenic | Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome |
| RS765683395 | Health Risk | Pathogenic | Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome |