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SRD5A3 mutants [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4755569
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective SRD5A3 causes SRD5A3-CDG, KHRZ (Homo sapiens)
Defective SRD5A3 does not reduce pPNOL to DCHOL (Homo sapiens)
SRD5A3 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
members
SRD5A3 F69Lfs*2 [endoplasmic reticulum membrane]
(Homo sapiens)
SRD5A3 Q96* [endoplasmic reticulum membrane]
(Homo sapiens)
SRD5A3 R142* [endoplasmic reticulum membrane]
(Homo sapiens)
SRD5A3 S10* [endoplasmic reticulum membrane]
(Homo sapiens)
SRD5A3 W107* [endoplasmic reticulum membrane]
(Homo sapiens)
SRD5A3 Y163* [endoplasmic reticulum membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
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