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ABCB6 mutants [mitochondrial outer membrane]
Stable Identifier
R-HSA-5683361
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
mitochondrial outer membrane
Locations in the PathwayBrowser
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Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCB6 causes MCOPCB7 (Homo sapiens)
Defective ABCB6 does not transport porphyrin from cytosol into mitochondria matrix (Homo sapiens)
ABCB6 mutants [mitochondrial outer membrane] (Homo sapiens)
Participants
members
ABCB6 A57T [mitochondrial outer membrane]
(Homo sapiens)
ABCB6 L811V [mitochondrial outer membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
microphthalmia
DOID:10629
simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos
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