rs13332
This is a synonymous variant in the CTSB gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Cathepsin B SNPs elevate the pathological development of oral cancer and raise the susceptibility to carcinogen-mediated oral cancerAssociationN=870Mu-Kuan Chen et al.(2012)· Human Genetics
Case-control study of 444 oral cancer patients and 426 controls in Taiwan examining three cathepsin B (CTSB) gene SNPs (rs12338, rs13332, rs8898). CTSB A8422G (rs8898) was associated with 3.325-fold increased risk for poor clinical stage oral cancer, and all three SNPs combined with betel quid chewing and/or tobacco use significantly elevated oral cancer susceptibility.
About CTSB
This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Both Cathepsin B and Cathepsin L are involved in the cleavage of the spike protein from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) upon its entry to the human host cell. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Sep 2020]
View all CTSB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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