rs34069356
This is a protein-altering variant in the CTSZ gene.
▶Research that mentions this SNP (1)
▶Association Analysis of Melanocortin 3 Receptor Polymorphisms with the Risk of Pulmonary TuberculosisAssociationN=1,265Byung Lae Park et al.(2014)· Lung
This case-control association study examined six melanocortin 3 receptor (MC3R) polymorphisms in 673 pulmonary tuberculosis patients and 592 healthy controls in a Korean population. The MC3R rs11575886 T>C promoter polymorphism showed marginal association with increased TB risk (OR = 1.46, p = 0.03), with the C-bearing genotype more frequent in TB patients (13.0%) than controls (9.6%), although significance was lost after multiple testing correction. In silico analysis suggested the C allele may reduce transcription factor binding.
About CTSZ
The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008]
View all CTSZ variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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