Cathepsin A , also carboxypeptidase C , PPCA (short for Protective Protein Cathepsin A - protective protein cathepsin A) ( EC 3.4.16.5 ) - a hydrolytic enzyme (hydrolase), a family of serine proteases (which includes cathepsin G ), is one of the human cathepsins , and is encoded by the CTSA gene, which is located on the 20th chromosome .
| Cathepsin A | |
|---|---|
 | |
| Designations | |
| Characters | CTSA ; GSL, PPGB |
| Entrez gene | 5476 |
| Hgnc | 9251 |
| Omim | 613111 |
| Refseq | NM_000308 |
| Other data | |
| Locus | 20th hr , 20q13.12 |
Cathepsin A forms complexes with lysosomal beta-galactosidase and lysosomal neuraminidase , ensuring the stability of the former and activation of the latter; in this regard, originally cathepsin A was called "protective protein" ( English protective protein ).
Medicine
CTSA gene mutations cause galactosialidosis ( galactosialidosis ; OMIM 256540 ). [one]
Notes
- ↑ Kleijer WJ, Geilen GC, Janse HC, et al. Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families (Eng.) // Pediatric Research : journal. - 1996. - Vol. 39 , no. 6 . - P. 1067-1071 . - DOI : 10.1203 / 00006450-199606000-00022 . - PMID 8725271 .