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HLCS mutants [cytosol]
Stable Identifier
R-HSA-3325449
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in biotin (Btn) metabolism (Homo sapiens)
Defective HLCS causes multiple carboxylase deficiency (Homo sapiens)
Defective HLCS does not biotinylate 6x(PCCA:PCCB) (Homo sapiens)
HLCS mutants [cytosol] (Homo sapiens)
Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2 (Homo sapiens)
HLCS mutants [cytosol] (Homo sapiens)
Defective HLCS does not biotinylate ACACA:Mn2+ (Homo sapiens)
HLCS mutants [cytosol] (Homo sapiens)
Defective HLCS does not biotinylate PC:Mn2+ (Homo sapiens)
HLCS mutants [cytosol] (Homo sapiens)
Participants
members
HLCS D571N [cytosol]
(Homo sapiens)
HLCS G261Vfs*20 [cytosol]
(Homo sapiens)
HLCS G581S [cytosol]
(Homo sapiens)
HLCS L216R [cytosol]
(Homo sapiens)
HLCS L237P [cytosol]
(Homo sapiens)
HLCS R508W [cytosol]
(Homo sapiens)
HLCS V550M [cytosol]
(Homo sapiens)
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