基因名称(Gene Name)
ABCD3 PMP70 PXMP1
蛋白名称
ATP-binding cassette sub-family D member 3 (70 kDa peroxisomal membrane protein) (PMP70)
免疫原
Synthesized peptide derived from human protein . at AA range: 40-120
特异性
ABCD3 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants
功能
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.,
