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BTD mutants [mitochondrial matrix]
Stable Identifier
R-HSA-4225084
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
mitochondrial matrix
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 BTD causes biotidinase deficiency (Homo sapiens)
Defective mitochondrial BTD does not hydrolyse BCTN (Homo sapiens)
BTD mutants [mitochondrial matrix] (Homo sapiens)
Participants
members
BTD A171T [mitochondrial matrix]
(Homo sapiens)
BTD C33Ffs*36 [mitochondrial matrix]
(Homo sapiens)
BTD G34S [mitochondrial matrix]
(Homo sapiens)
BTD Q456H [mitochondrial matrix]
(Homo sapiens)
BTD R538C [mitochondrial matrix]
(Homo sapiens)
BTD R79C [mitochondrial matrix]
(Homo sapiens)
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