CTSA

Chr 20

cathepsin A

Also known as: BSVD6, GLB2, GSL, NGBE, PPCA, PPGB

NCBI Gene: 5476 ENSG00000064601 UniProt: P10619

The protein is a lysosomal serine carboxypeptidase with deamidase, esterase and carboxypeptidase activities that serves as a scaffold in the lysosomal multienzyme complex. Mutations cause galactosialidosis through autosomal recessive inheritance and brain small vessel disease 6 with leukoencephalopathy through autosomal dominant inheritance. The predicted mechanism of pathogenicity is dominant negative.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGalactosialidosis

UniProtBrain small vessel disease 6 with leukoencephalopathy

Clinical highlights

Gene-disease validity (ClinGen)

galactosialidosis · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.88

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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