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ABCA3 mutants [lamellar body membrane]
Stable Identifier
R-HSA-5683704
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
lamellar body membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCA3 causes SMDP3 (Homo sapiens)
Defective ABCA3 does not transport PC, PG from ER membrane to lamellar body (Homo sapiens)
ABCA3 mutants [lamellar body membrane] (Homo sapiens)
Participants
members
ABCA3 D253H [lamellar body membrane]
(Homo sapiens)
ABCA3 L101P [lamellar body membrane]
(Homo sapiens)
ABCA3 L1553P [lamellar body membrane]
(Homo sapiens)
ABCA3 L326P [lamellar body membrane]
(Homo sapiens)
ABCA3 T1173R [lamellar body membrane]
(Homo sapiens)
ABCA3 W1142* [lamellar body membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
newborn respiratory distress syndrome
DOID:12716
Neonatal respiratory Distress syndrome, hyaline membrane disease, HMD - Hyaline membrane disease, pulmonary hypoperfusion syndrome of newborn, respiratory distress syndrome of newborn, pulmonary hyaline membrane disease
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