Alpha Galactosidase A

From Anvita Health Wiki

Contents 1 More Specific Terms 2 Function 3 Structure 4 Compartment 5 Rna-editing 6 Pathology 7 Biotechnology 8 Genetics 9 Pharmacology 10 More General Terms 11 Additional Terms 12 Internet Database 13 References

More Specific Terms

• agalsidase beta (Fabrazyme, Replagal)
• alpha-D-galactosidase enzyme (Beano)

Function

• hydrolysis of terminal, non- reducing alpha-D- galactose residues in alpha-D- galactosides, including galactose oligosaccharides, galactomannans & galactohydrolase
• catalyzes hydrolysis of melibiose into galactose & glucose

Structure

• homodimer
• belongs to the glycosyl hydrolase 27 family

Compartment

• lysosome

Rna-editing

• modified positions=396; note=partially edited

Pathology

• defects in GLA are the cause of Fabry disease

Biotechnology

• used to convert blood group antigens of type B into type O, the universal donor type

Genetics

• Gene locus: Xq22

Pharmacology

• available as agalsidase beta under the names

• Replagal (Transkaryotic Therapies)

• Fabrazyme (Genzyme)

More General Terms

• alpha-galactosidase or galactoside galactohydrolase
• glycoprotein

Additional Terms

• Fabry's disease; angiokeratoma corporis diffusum

Internet Database

UniProt: [1]
Prosite: [2]
OMIM: 301500
Entrez gene: 2717

References

1. UniProt [3]
2. GeneReviews [4]

alpha-galactosidase A (ceramide trihexosidase, melibiase, GLA)