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

Ссылки: