GLA molecular target information overview
Overview of GLA molecular targets
Alpha-galactosidase A, also known as GLA, is a member of the glycosyl hydrolase 27 family. GLA can be used as long-term enzyme replacement therapy for patients with established Fabry disease (FD). GLA deficiency causes FD, a rare X-linked disorder of sphingolipid metabolism characterized by the accumulation of glycolipids in many tissues. FD is an inborn error in the catabolism of glycosphingolipids, with systemic accumulation of ceramide trihexosylceramide (Gb3) and related glycosphingolipids in plasma and cellular lysosomes throughout the body. Characteristic skin lesions (angiokeratoma) on the lower trunk of males are clinically recognized by physicians. In addition, patients may present with eye deposits, fever, and burning pain in the extremities. Death in patients with FD can result from renal failure, cardiac or cerebral complications due to hypertension, or other vascular diseases. GLA deficiency leads to the accumulation of glycosphingolipids in the blood vessels, which in turn leads to multiple organ disease. In addition to microvascular disease, GLA deficiency can also lead to early macrovascular disease such as stroke and myocardial infarction.
Human GLA Molecular Target Information
Molecular name: GLA, galactosidase alpha
Synonyms:
- agalsidase alfa
- alpha-D-galactosidase A
- alpha-D-galactoside galactohydrolase 1
- alpha-gal A
- alpha-galactosidase A
- GALA
- galactosidase, alpha
- galactosylgalactosylglucosylceramidase GLA
- melibiase
Gene sequence:NCBI_Gene: 2717
Protein sequence:UniProtKB: P06280
Human GLA target molecular function (prediction)
Enables hydrolase activity, hydrolyzing O-glycosyl compounds; protein homodimerization activity; and signaling receptor binding activity. Involved in glycosphingolipid catabolic process and oligosaccharide metabolic process. Located in Golgi apparatus; extracellular region; and lysosome. Implicated in Fabry disease.
Mouse Gla molecular target information
Molecular name: Gla, galactosidase, alpha
Alias:
- Ags
- alpha-galactosidase
Gene sequence:NCBI_Gene: 11605
Protein sequence:
Mouse Gla target molecular function (prediction)
Enables alpha-galactosidase activity. Involved in negative regulation of nitric oxide biosynthetic process and negative regulation of nitric-oxide synthase activity. Acts upstream of or within glycosylceramide catabolic process. Located in extracellular space and lysosome. Is expressed in several structures, including adrenal gland; alimentary system; brain; genitourinary system; and liver and biliary system. Used to study Fabry disease. Human ortholog(s) of this gene implicated in Fabry disease. Orthologous to human GLA (galactosidase alpha).
Rat Gla molecular target information
Molecular name: Gla, galactosidase, alpha
Synonyms:
- alpha-galactosidase A
- galactosidase, alpha (mapped)
- Gla_mapped
Gene sequence:NCBI_Gene: 363494
Protein sequence:UniProtKB: D3ZJF9
Rat Gla target molecular function (prediction)
Enables alpha-galactosidase activity and galactoside binding activity. Predicted to be involved in several processes, including glycosylceramide catabolic process; negative regulation of nitric oxide biosynthetic process; and negative regulation of nitric-oxide synthase activity. Located in lysosome. Used to study Fabry disease and lysosomal storage disease. Human ortholog(s) of this gene implicated in Fabry disease. Orthologous to human GLA (galactosidase alpha).