A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.

ABSTRACT:

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 improper coding, resulting in dysfunctional or non-functional protein, causing the disease alpha-mannosidosis. Mapping disease mutations to the structure of the protein can help in understanding the functional consequences of these mutations and thus indirectly, the finer aspects of the pathology and clinical manifestations of the disease, including phenotypic severity as a function of the genotype.

Results

A comprehensive homology modeling study of all the wild-type and inherited mutatio

SUBMITTER: Khan JM 

PROVIDER: S-EPMC2788387 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature