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STRA6 mutants [plasma membrane]
Stable Identifier
R-HSA-2453805
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
plasma membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of the neuronal system (Homo sapiens)
Diseases associated with visual transduction (Homo sapiens)
Retinoid cycle disease events (Homo sapiens)
Defective STRA6 does not transport atROL (Homo sapiens)
TTR:RBP4:atROL:STRA6 mutants [plasma membrane] (Homo sapiens)
STRA6 mutants [plasma membrane] (Homo sapiens)
Participants
members
STRA6 P90L [plasma membrane]
(Homo sapiens)
STRA6 R655C [plasma membrane]
(Homo sapiens)
STRA6 T321P [plasma membrane]
(Homo sapiens)
STRA6 T644M [plasma membrane]
(Homo sapiens)
STRA6 W23* [plasma membrane]
(Homo sapiens)
STRA6 P293L [plasma membrane]
(Homo sapiens)
Participates
as a component of
TTR:RBP4:atROL:STRA6 mutants [plasma membrane] (Homo sapiens)
Disease
Name
Identifier
Synonyms
microphthalmia
DOID:10629
simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos
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