ATP-binding cassette sub-family D member 3 (ABCD3)

ATP-binding cassette sub-family D member 3 (ABCD3, also known as PMP70) is a peroxisomal membrane transporter belonging to the ABC transporter superfamily[1][4]. It mediates peroxisomal import of specific fatty acyl-CoAs, including long-chain and branched-chain fatty acids, dicarboxylic fatty acids, and bile acid precursors, facilitating their subsequent β-oxidation in the peroxisome[1][2][4][5]. Structurally, ABCD3 is a half-transporter that forms functional homo- or heterodimers in the peroxisomal membrane[3][4]. Mutations in ABCD3 can lead to peroxisomal metabolic disorders, including rare cases of congenital bile acid synthesis defect and potentially contribute to the spectrum of Zellweger syndrome[1][2][4]. The protein plays a critical role in maintaining lipid metabolic balance and peroxisome function within cells[2][4]. No approved or clinically established drugs specifically target ABCD3, and its main human disease links are genetic in nature.

Other names

ATP-binding cassette sub-family D member 3PMP70PXMP1ZWS270 kDa peroxisomal membrane proteinperoxisomal membrane protein 70 kDaABC43CBAS5peroxisomal membrane protein-1 (70kD)peroxisomal membrane protein 1 (70kD, Zellweger syndrome)