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ABCC8 mutants (PNDM, TNDM2) [plasma membrane]
Stable Identifier
R-HSA-5683210
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 ABCC8 can cause hypo- and hyper-glycemias (Homo sapiens)
Activating ABCC8 mutants cause hyperglycemia in permanent neonatal diabetes mellitus (PNDM) and transient neonatal DM (TNDM) (Homo sapiens)
ABCC8 mutants (PNDM, TNDM2) [plasma membrane] (Homo sapiens)
Participants
members
ABCC8 P132L [plasma membrane]
(Homo sapiens)
ABCC8 A1185E [plasma membrane]
(Homo sapiens)
ABCC8 E382K [plasma membrane]
(Homo sapiens)
ABCC8 L213R [plasma membrane]
(Homo sapiens)
ABCC8 N72S [plasma membrane]
(Homo sapiens)
ABCC8 L582V [plasma membrane]
(Homo sapiens)
ABCC8 R1379C [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
neonatal diabetes mellitus
DOID:11717
diabetes mellitus syndrome in newborn infant
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