LP199573-9

Cathepsin A

Active

Description

Cathepsin A (Lysosomal protective protein) [UniProt: P10619] is encoded by the CTSA gene [NCBI Gene ID: CTSA] and active in lysosomes where it acts as a protease as well as a protective protein. Patients deficient in cathepsin A due to mutations in the CTSA gene have symptoms of galactosialidosis, an autosomal recessive lysosomal storage disease characterized by combined deficiency of β-galactosidase and neuraminidase. PMID: 8725271 Normally, the protein forms a complex with neuraminidase 1 and elastin binding protein, forming the elastin binding protein receptor. Many CTSA mutations disrupt the protein structure of cathepsin A, impairing its ability to join with these other proteins. As a result, they are not functional or break down prematurely, which is thought to causes the signs and symptoms of galactosialidosis.[MedlinePlus Condition: Source: Regenstrief LOINC

Basic Part Properties

Part Name

Cathepsin A

Part Display Name

Cathepsin A

Part Type

Component (Describes the core component or analyte measured)

Created On

2015-07-28

Construct for LOINC Short Name

Cathepsin A

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