Gene: [20q131/CTSA] cathepsin A (carboxypeptidase C); neuraminidase/beta-galactosidase protective protein; galactosialidosis (Goldberg syndrome);
FUN | The lysosomal protective protein is essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase with a broad specificity and can deamidates tachykinins." |
MEB | Heterodimer of a 32 kD and 20 kD chains linked by disulfide bonds. |
FAG | [1] On
beta-galactosidase see GEM:03p2133/GLB1.
[2] On other cathepsin genes see GEM:08p22/CTSB and FAM:CTS/00.0." |
REF | PAT,MEB,FUN
"d'Azzo A &: PNAS, 79, 4535-4539, 1982 HIS,CYG "De Wit J &: Somat Cell Genet, 3, 351-363, 1977 FUN,PAT,MUT "Galjart NJ &: JBC, 266, 14754-14762, 1991 LOC,CYG "Mueller OT &: PNAS, 83, N6, 1817-1821, 1986 PAT,MUT,SEQ "Shimmoto M &: J Clin Invest, 91, 2393-2398, 1993 HIS,CYG "Sips HJ &: Hum Genet, 69, 340-344, 1985 PAT,MUT,SEQ "Zhou XY &: EMBO J, 10, 4041-4048, 1991 |
SWI | SWISSPROT: P10619 |
KEY | lys, pep, carb |
CLA | coding, basic |
LOC | 20 q13.1 |
MIM | MIM: 256540 |
EZN | ENZYME: 3.4.16.5 |
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