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ABCD4 mutant:LBRD1 complexes [lysosomal membrane]
Stable Identifier
R-HSA-5683323
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
lysosomal membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in cobalamin (B12) metabolism (Homo sapiens)
Defective ABCD4 causes MAHCJ (Homo sapiens)
Defective ABCD4:LMBRD1 does not transport Cbl from lysosomal lumen to cytosol (Homo sapiens)
ABCD4 mutant:LBRD1 complexes [lysosomal membrane] (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCD4 causes MAHCJ (Homo sapiens)
Defective ABCD4:LMBRD1 does not transport Cbl from lysosomal lumen to cytosol (Homo sapiens)
ABCD4 mutant:LBRD1 complexes [lysosomal membrane] (Homo sapiens)
Participants
members
ABCD4 E583Lfs*9:LMBRD1 [lysosomal membrane]
(Homo sapiens)
ABCD4 Y319C:LMBRD1 [lysosomal membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
methylmalonic acidemia
DOID:14749
METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
homocystinuria
DOID:9263
cystathionine beta synthase deficiency, cystathionine synthase deficiency, Homocystinuria (disorder), CBS deficiency
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