Gene: CTSB

Alternate names for this Gene: APPS|CPSB|RECEUP

Gene Summary: 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. Multiple pseudogenes of this gene have been identified. 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.1

Description of this Gene: cathepsin B

Type of Gene: protein-coding

rs1293292 in CTSB gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2740594 in CTSB gene and Parkinson Disease PMID 28892059 2017 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.

rs3947 in CTSB gene and Triglycerides measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.