CTSB Chromosome 8

Cathepsin B
5 variants 5 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"Cathepsins|Elastases"
Locus Type
gene with protein product
Location
8p23.1
Ensembl
ENSG00000164733
Associated Conditions (1)
Keratolytic winter erythema
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS139053473 Health Risk Conflicting classifications of pathogenicity
RS201335839 Health Risk Conflicting classifications of pathogenicity
RS750280339 Health Risk Conflicting classifications of pathogenicity
RS768758957 Health Risk Conflicting classifications of pathogenicity Keratolytic winter erythema, Keratolytic winter erythema
RS776915596 Health Risk Conflicting classifications of pathogenicity
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