The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Preparation and Storage
Stability and Storage
Shipped at 4°C. Store at -20ºC.
Constituents: 0.32% Tris HCl, 0.58% Sodium chloride
ReconstitutionReconstitute with water to desired concentration
ATP binding cassette, sub family D (ALD), member 1
ATP-binding cassette sub-family D member 1
X linked adrenoleukodystrophy (ALD) gene homolog
FunctionProbable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.
Involvement in diseaseDefects 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. Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31.
Sequence similaritiesBelongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. Contains 1 ABC transmembrane type-1 domain. Contains 1 ABC transporter domain.