基因名：
ABCD4
产品别名：
ABC41； EST352188； MAHCJ； P70R； P79R； PMP69； PXMP1L； ABCD4； ATP binding cassette subfamily D member 4； ATP binding cassette subfamily D member 4； lysosomal cobalamin transporter ABCD4； 69 kDa peroxisomal ABC-transporter； ATP-binding cassette sub-family D member 4； ATP-binding cassette, sub-family D (ALD), member 4； PMP70-related protein； PXMP1-L； peroxisomal membrane protein 69； ATP结合盒转运蛋白D4(ABCD4)； 三磷酸腺苷结合盒转运蛋白4；
背景信息：
The peroxisomal membrane contains several ATP-binding cassette (ABC) transporters, ABCD1-4 that are known to be present in the human peroxisome membrane. All four proteins are ABC half-transporters, which dimerize to form an active transporter. A mutation in the ABCD1 gene causes X-linked adreno-leukodystrophy (X-ALD), a peroxisomal disorder which affects lipid storage. ABCD2 in mouse is expressed at high levels in the brain and adrenal organs, which are adversely affected in X-ALD. The peroxisomal membrane comprises two quantitatively major proteins, PMP22 and ABCD3. ABCD3 is associated with irregularly shaped vesicles which may be defective peroxisomes or peroxisome precursors. ABCD1 localizes to peroxisomes. ABCB7 is a half-transporter involved in the transport of heme from the mitochondria to the cytosol.
