Article
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
BMC genomics - 3 Dec 2009
Khan Javed Mohammed, Ranganathan Shoba
Abstract excerpt
BACKGROUND: Lysosomal alpha-mannosidase is an enzyme that acts to degrade N-linked oligosaccharides and hence plays an important role in mannose metabolism in humans and other mammalian species, especially livestock. Mutations in the gene (MAN2B1) encoding lysosomal alpha-D-mannosidase cause impr...
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