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

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

• recombinant alpha-galactosidase A
  • available as agalsidase beta under the names
    • Replagal (Transkaryotic Therapies)
      • Fabrazyme (Genzyme)
  • available as pegunigalsidase alfa (Elfabrio)

Laboratory

• GLA gene mutation
• alpha-galactosidase A in fibroblasts
• alpha-galactosidase A in leukocytes

More general terms

• alpha-galactosidase or galactoside galactohydrolase
• glycoprotein

More specific terms

• agalsidase beta (Fabrazyme, Replagal)
• alpha-D-galactosidase enzyme (Beano)
• pegunigalsidase alfa-iwxj (Elfabrio)

Additional terms

• Fabry's disease; angiokeratoma corporis diffusum

Database

• UniProt: http://www.uniprot.org/uniprot/P06280.html
• OMIM: https://mirror.omim.org/entry/301500
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2717