rs28365927
This is a variant in the PSMD13 gene that changes a arginine to an tryptophan.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶The dominant model analysis of Sirt3 genetic variants is associated with susceptibility to tuberculosis in a Chinese Han populationAssociationN=2,434Tao Wu et al.(2020)· Molecular Genetics and Genomics
A case-control study of 900 TB patients and 1534 controls in a Chinese Han population examined five SIRT3 gene SNPs for association with tuberculosis susceptibility. The rs3782118 minor allele (A) showed decreased TB risk (OR 0.787, p=0.026 under dominant model), and haplotype AGAAG was associated with increased TB risk (OR 1.159, p=0.023). Stratification analysis found the protective effect of rs3782118 was particularly pronounced in females (OR 0.678, p=0.016).
About PSMD13
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
View all PSMD13 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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