alpha-galactosidase B or alpha-N-acetylgalactosaminidase

Function

• Catalyzes the hydrolysis of terminal non-reducing N-acetyl-D- galactosamine residues in N-acetyl-alpha-D-galactosaminides.

Pathology

• defects in NAGA associated with NAGA deficiency
  • Schindler disease, Kanzaki disease

Genetics

Gene locus: 22q13-qter|22q11

Laboratory

• alpha-galactosidase B in fibroblasts
• alpha-galactosidase B in leukocytes
• alpha-galactosidase B in dried blood spot
• alpha-galactosidase B in serum/plasma

More general terms

• alpha-galactosidase or galactoside galactohydrolase

Database

• UniProt: http://www.uniprot.org/uniprot/P17050.html
• OMIM: https://mirror.omim.org/entry/104170
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4668