This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008].
Smith, Jäntti, Oja, Saloheimo: "Comparison of intracellular and secretion-based strategies for production of human ?-galactosidase A in the filamentous fungus Trichoderma reesei." in: BMC biotechnology, Vol. 14, pp. 91, (2015) (PubMed).
Corchero, Mendoza, Lorenzo, Rodríguez-Sureda, Domínguez, Vázquez, Ferrer-Miralles, Villaverde: "Integrated approach to produce a recombinant, His-tagged human ?-galactosidase A in mammalian cells." in: Biotechnology progress, Vol. 27, Issue 5, pp. 1206-17, (2011) (PubMed).
Aliases for GLA Proteins
galactosidase alpha (GLA) Proteins galactosidase, alpha (Gla) Proteins galactosidase, alpha (gla) Proteins galactosidase alpha S homeolog (gla.S) Proteins galactosidase alpha (gla) Proteins alpha-galactosidase (agaN) Proteins aga (aga) Proteins alpha-galactosidase (agaL) Proteins alpha-galactosidase (SCO0541) Proteins alpha-galactosidase (rafA) Proteins alpha-galactosidase (melA) Proteins alpha-galactosidase (galA) Proteins alpha-galactosidase A (ANI_1_2528074) Proteins alpha-galactosidase A (ANI_1_1502124) Proteins alpha-galactosidase A (AOR_1_390174) Proteins alpha-galactosidase A (CpipJ_CPIJ002066) Proteins alpha-galactosidase (aga) Proteins alpha-galactosidase A (MCYG_00962) Proteins alpha-galactosidase A (MCYG_00791) Proteins alpha-galactosidase (gla) Proteins alpha-galactosidase A (Tsp_02909) Proteins alpha-galactosidase A (Tsp_02508) Proteins galactosidase alpha (Gla) Proteins galactosidase, alpha (GLA) Proteins Ags Proteins alpha-GAL Proteins AO090005000217 Proteins GALA Proteins MGC130872 Proteins SCF11.21 Proteins SMU.877 Proteins zgc:101584 Proteins