CTSA Gene - Cathepsin A
Lysosomal Protective Protein and Carboxypeptidase
Gene Information Card
| Symbol | CTSA |
|---|---|
| Full Name | Cathepsin A |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 5476 ncbi.nlm.nih.gov/gene/5476 |
| Ensembl ID | ENSG00000101247 |
| UniProt ID | P10619 |
| OMIM ID | 256540 |
| HGNC ID | 2426 |
| Aliases | PPGB, GLB2, GSL, NGBE, lysosomal protective protein |
Description
CTSA encodes cathepsin A, a lysosomal serine carboxypeptidase that forms a protective complex with beta-galactosidase and neuraminidase. It is essential for the stability and activity of these enzymes. Mutations in CTSA cause galactosialidosis, a lysosomal storage disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Galactosialidosis | Loss of CTSA function leads to combined deficiency of beta-galactosidase and neuraminidase, causing lysosomal accumulation of glycoproteins and glycolipids. | ClinVar, OMIM |
| Schizophrenia | Rare CTSA variants have been associated with increased risk, possibly via lysosomal dysfunction. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 24.5 | High |
| Kidney | 18.3 | High |
| Liver | 15.2 | Medium |
| Brain | 10.1 | Medium |
| Heart | 8.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 22.1 | Hepatocellular carcinoma cell line |
| A549 | 19.8 | Lung adenocarcinoma cell line |
| K562 | 12.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.746G>A (p.Arg249His) | Missense | 1.2% | Reduced protective activity, associated with galactosialidosis |
| c.1135C>T (p.Arg379Cys) | Missense | 0.8% | Loss of carboxypeptidase activity, pathogenic |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Complete loss of protein, severe galactosialidosis |
Mutation functional classification
Loss of Function (LOF)
Most CTSA mutations cause loss of protective function, leading to combined enzyme deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • serine-type carboxypeptidase activity (GO:0004185) | • lysosome (GO:0005764) |
| • proteolysis (GO:0006508) | • ganglioside catabolic process (GO:0006689) |
| • lysosome organization (GO:0007040) |
Pathways
• Lysosome (KEGG: hsa04142)
• Sphingolipid metabolism (KEGG: hsa00600)
• Glycosphingolipid biosynthesis (KEGG: hsa00603)
Protein Summary
Cathepsin A is a 480-amino acid glycoprotein that functions as a protective protein for beta-galactosidase and neuraminidase in lysosomes. It also has carboxypeptidase and deamidase activities. The protein is synthesized as a precursor and cleaved into 32 kDa and 20 kDa subunits that form a heterodimer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTSA Knockout HEK293 Cell Line | EDJ-KQ5514 | Human | 5476 | Details Get a Quote |
| CTSA Knockout A-549 Cell Line | EDJ-KQ27509 | Human | 5476 | Details Get a Quote |
| CTSA Knockout HCT 116 Cell Line | EDJ-KQ28758 | Human | 5476 | Details Get a Quote |
| CTSA Knockout HeLa Cell Line | EDJ-KQ28759 | Human | 5476 | Details Get a Quote |
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