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CTSB cathepsin B

Gene ID: 1508, updated on 17-Jun-2024
Gene type: protein coding
Also known as: KWE; APPS; CPSB; RECEUP

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. 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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Keratolytic winter erythema
MedGen: C0406756OMIM: 148370GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-02-08)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-02-08)

ClinGen Genome Curation Page

Genomic context

Location:
8p23.1
Sequence:
Chromosome: 8; NC_000008.11 (11842524..11868087, complement)
Total number of exons:
14

Links

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