CTSB cathepsin B
Gene ID: 1508, updated on 17-Jun-2024Gene type: protein coding
Also known as: KWE; APPS; CPSB; RECEUP
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- Go to complete Gene record for CTSB
- Go to Variation Viewer for CTSB variants
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
Description | Tests |
---|---|
Keratolytic winter erythema | See labs |
Copy number response
Description |
---|
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-02-08) ClinGen Genome Curation PageTriplosensitivity 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
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CTSB variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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