其他名称： ABCD1; ALD; ATP-binding cassette sub-family D member 1; Adrenoleukodystrophy protein; ALDP
实测条带： 75kD
信号通路： ABC transporters;
功能： disease:Defects in ABCD1 are the cause of adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]. X-ALD is a peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and "Addison disease only" (ADO) phenotype.,disease:Microdeletions in ABCD1 are involved in the contiguous ABCD1/DXS1375E deletion syndrome (CADDS) [MIM:300475]. Patients manifest profound neonatal hypotonia, subsequent failure to thrive, and cholestatic liver disease.,function:Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.,similarity:Belongs to the ABC transporter family. ALD subfamily.,similarity:Contains 1 ABC transmembrane type-1 domain.,similarity:Contains 1 ABC transporter domain.,subunit:Can form homo- and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19.,
其他名称： ABCD1; ALD; ATP-binding cassette sub-family D member 1; Adrenoleukodystrophy protein; ALDP
实测条带： 75kD
信号通路： ABC transporters;
功能： disease:Defects in ABCD1 are the cause of adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]. X-ALD is a peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and "Addison disease only" (ADO) phenotype.,disease:Microdeletions in ABCD1 are involved in the contiguous ABCD1/DXS1375E deletion syndrome (CADDS) [MIM:300475]. Patients manifest profound neonatal hypotonia, subsequent failure to thrive, and cholestatic liver disease.,function:Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.,similarity:Belongs to the ABC transporter family. ALD subfamily.,similarity:Contains 1 ABC transmembrane type-1 domain.,similarity:Contains 1 ABC transporter domain.,subunit:Can form homo- and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19.,
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