Biology:Cathepsin A

Generic protein structure example

Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.

Function

This gene encodes a glycoprotein that associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high-molecular-weight multimers. The formation of this complex provides a protective role for stability and activity. It is protective for β-galactosidase and neuraminidase.

Clinical significance

Deficiencies in this gene are linked to multiple forms of galactosialidosis.

Interactions

Cathepsin A has been shown to interact with NEU1.

Further reading

• "Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum.". J. Biol. Chem. 267 (25): 17949–56. 1992. doi:10.1016/S0021-9258(19)37135-2. PMID 1387645. 
• "Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20.". Am. J. Med. Genet. 43 (3): 576–9. 1992. doi:10.1002/ajmg.1320430314. PMID 1605251. 
• "A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal "protective protein".". J. Biol. Chem. 265 (19): 11265–72. 1990. doi:10.1016/S0021-9258(19)38586-2. PMID 1694176. 
• "A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.". EMBO J. 10 (13): 4041–8. 1992. doi:10.1002/j.1460-2075.1991.tb04980.x. PMID 1756715. 
• "Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function.". J. Biol. Chem. 266 (22): 14754–62. 1991. doi:10.1016/S0021-9258(18)98751-X. PMID 1907282. 
• "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.". Am. J. Hum. Genet. 49 (2): 435–42. 1991. PMID 1907800. 
• "The gene encoding human protective protein (PPGB) is on chromosome 20.". Genomics 10 (2): 345–9. 1991. doi:10.1016/0888-7543(91)90318-9. PMID 2071143. 
• "Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form.". Am. J. Med. Genet. 37 (4): 573–7. 1991. doi:10.1002/ajmg.1320370431. PMID 2148053. 
• "Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities.". Biochem. Biophys. Res. Commun. 172 (3): 1175–9. 1990. doi:10.1016/0006-291X(90)91572-A. PMID 2244901. 
• "Immunoelectron microscopical localization of lysosomal beta-galactosidase and its precursor forms in normal and mutant human fibroblasts.". Eur. J. Cell Biol. 40 (1): 9–15. 1986. PMID 3084261. 
• "Purification and partial characterization of lysosomal neuraminidase from human placenta.". Eur. J. Biochem. 162 (1): 63–7. 1987. doi:10.1111/j.1432-1033.1987.tb10542.x. PMID 3102233. 
• "Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts.". Biochem. Biophys. Res. Commun. 144 (1): 138–42. 1987. doi:10.1016/S0006-291X(87)80486-2. PMID 3107551. 
• "Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases.". Cell 54 (6): 755–64. 1988. doi:10.1016/S0092-8674(88)90999-3. PMID 3136930. 
• "Juvenile galactosialidosis in a white male: a new variant.". Am. J. Med. Genet. 31 (4): 887–901. 1989. doi:10.1002/ajmg.1320310423. PMID 3149149. 
• "Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein.". Eur. J. Biochem. 149 (2): 315–21. 1985. doi:10.1111/j.1432-1033.1985.tb08928.x. PMID 3922758. 
• "Morquio B syndrome: a primary defect in beta-galactosidase.". Am. J. Med. Genet. 16 (2): 261–75. 1984. doi:10.1002/ajmg.1320160215. PMID 6418007. 
• "Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family.". J. Inherit. Metab. Dis. 4 (4): 221–3. 1982. doi:10.1007/BF02263656. PMID 6796775. 
• "Direct affinity purification and supramolecular organization of human lysosomal cathepsin A.". Arch. Biochem. Biophys. 313 (1): 64–70. 1994. doi:10.1006/abbi.1994.1359. PMID 8053688. 
• "Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.". Pediatr. Neurol. 10 (4): 317–9. 1994. doi:10.1016/0887-8994(94)90129-5. PMID 8068159. 
• "Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.". Am. J. Hum. Genet. 54 (6): 1004–13. 1994. PMID 8198123. 

External links

• Cathepsin+A at the US National Library of Medicine Medical Subject Headings (MeSH)