Reaction: Defective MAN1B1 does not hydrolyse 1,2-linked mannose (c branch)
- in pathway: Defective MAN1B1 causes MRT15
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (MAN1B1) normally trims single mannose residues from misfolded glycoproteins, targeting them for degradation and thus providing a quality control process for N-glycosylated proteins. Defects in MAN1B1 can cause mental retardation, autosomal recessive 15 (MRT15; MIM:614202), a disorder resulting in nonsyndromic moderate to severe mental retardation. It is characterised by significantly below average intellectual functioning associated with impaired adaptative behaviour during the developmental period (Rafiq et al. 2010, Rafiq et al. 2011). Mutations that can cause MRT15 are E397K, W473* and R334C (Rafiq et al. 2010, Rafiq et al. 2011).
Reaction - small molecule participants:
H2O [endoplasmic reticulum quality control compartment]
Reactome.org reaction link: R-HSA-9036012
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Reaction input - small molecules:
water
Reaction output - small molecules:
Reactome.org link: R-HSA-9036012