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ABCC9 mutants [plasma membrane]
Stable Identifier
R-HSA-5678456
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
plasma membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome (Homo sapiens)
Defective ABCC9 (in KCNJ11:ABCC9) does not transport K+ from extracellular region to cytosol (Homo sapiens)
ABCC9 mutants:KCNJ11 [plasma membrane] (Homo sapiens)
ABCC9 mutants [plasma membrane] (Homo sapiens)
Participants
members
ABCC9 L1524Kfs*5 [plasma membrane]
(Homo sapiens)
ABCC9 T1547I [plasma membrane]
(Homo sapiens)
ABCC9 A1513T [plasma membrane]
(Homo sapiens)
ABCC9 C1043Y [plasma membrane]
(Homo sapiens)
ABCC9 H60Y [plasma membrane]
(Homo sapiens)
ABCC9 R1116H [plasma membrane]
(Homo sapiens)
ABCC9 R1154Q [plasma membrane]
(Homo sapiens)
ABCC9 R1154W [plasma membrane]
(Homo sapiens)
ABCC9 S1020P [plasma membrane]
(Homo sapiens)
Participates
as a component of
ABCC9 mutants:KCNJ11 [plasma membrane] (Homo sapiens)
Disease
Name
Identifier
Synonyms
hypertrichosis
DOID:420
hypertrichosis NOS (disorder), hypertrichosis (disorder)
familial atrial fibrillation
DOID:0050650
ATFB
osteochondrodysplasia
DOID:2256
Unspecified anomaly of cartilage (disorder), chondrodystrophy, Congenital anomaly of cartilage (disorder), Osteochondrodysplasia syndrome (disorder), Cartilage Development disorder
dilated cardiomyopathy
DOID:12930
primary dilated cardiomyopathy
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