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MAN1B1 mutants [endoplasmic reticulum quality control compartment]
Stable Identifier
R-HSA-4960920
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
endoplasmic reticulum quality control compartment
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective MAN1B1 causes MRT15 (Homo sapiens)
Defective MAN1B1 does not hydrolyse 1,2-linked mannose (a branch) (Homo sapiens)
MAN1B1 mutants [endoplasmic reticulum quality control compartment] (Homo sapiens)
Defective MAN1B1 does not hydrolyse 1,2-linked mannose (b branch) (Homo sapiens)
MAN1B1 mutants [endoplasmic reticulum quality control compartment] (Homo sapiens)
Defective MAN1B1 does not hydrolyse 1,2-linked mannose (c branch) (Homo sapiens)
MAN1B1 mutants [endoplasmic reticulum quality control compartment] (Homo sapiens)
Defective MAN1B1 does not hydrolyse a second 1,2-linked mannose (a branch) (Homo sapiens)
MAN1B1 mutants [endoplasmic reticulum quality control compartment] (Homo sapiens)
Participants
members
MAN1B1 E397K [endoplasmic reticulum quality control compartment]
(Homo sapiens)
MAN1B1 R334C [endoplasmic reticulum quality control compartment]
(Homo sapiens)
MAN1B1 W473* [endoplasmic reticulum quality control compartment]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type II
DOID:0050571
Cross References
Mondo
0005501
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