Mannosidase Beta A, Lysosomal (MANbA)

MANBA encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement.The composite cDNA was 3,293 nucleotides, consisting of an 87-nucleotide 5-prime untranslated region, 2,640-nucleotide coding region, and 566-nucleotide 3-prime untranslated region. Analysis of a multiple tissue Northern blot demonstrated a single 3.7-kb transcript. Comparison of the caprine and bovine cDNAs revealed that 96.3% of the nucleotides and 95% of the deduced amino acids were identical.