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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Peroxisome membrane ; Multi-pass membrane protein .
组织表达： Brain,Liver,Lung,
科研货号： PLA006338
ABCD3 Polyclonal Antibody
Catalog NoPLA006338
Product information
基因名称： ABCD3 PMP70 PXMP1
蛋白名称： ATP-binding cassette sub-family D member 3 (70 kDa peroxisomal membrane protein) (PMP70)
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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Peroxisome membrane ; Multi-pass membrane protein .
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