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MANBA encodes a member of the glycosyl hydrolase 2 family.
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The MANBA genotypes for a polymorphic CA repeat were related to colorectal cancer risk in a Swedish population but not a Chinese one. In the Swedish population, individuals with < 22 CAs (show CSE1L ELISA Kits)/< 22 CAs (show CSE1L ELISA Kits) had a significantly increased risk for CRC (show CALR ELISA Kits).
The present analysis of the c.1922G>A MANBA mutation underlines the lack of genotype-phenotype correlation in beta-mannosidosis
This gene 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.
, mannosidase, beta A, lysosomal
, hypothetical protein
, lysosomal beta A mannosidase