ABCD3 Polyclonal Antibody

disease:Defects in ABCD3 may be the cause of Zellweger syndrome type 2 (ZWS-2) [MIM:170995]. ZWS-2 is an autosomal recessive disorder due to defective import mechanisms for peroxisomal matrix enzymes. The clinical phenotype includes characteristic facies, progressive neurological dysfunction, liver disease and death in infancy.,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 heterodimers with ABCD1/ALD and ABCD2/ALDR. Dimerization is necessary to form an active transporter. Interacts with PEX19.,