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Immunogen sequence: TLVSKNAFVC IYLISCFTQL IDLSTTLSDV AGYTHRIGQL RETLLDMSLK SQDCEILGES EWGLDTPPGW PAAEPADTAF LLERVSISAP SSDKPLIKDL SLKISEGQSL LITGNTGTGK
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.
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Protein Aliases: 69 kDa peroxisomal ABC-transporter; ATP-binding cassette sub-family D member 4; ATP-binding cassette, sub-family D (ALD), member 4; Lysosomal cobalamin transporter ABCD4; P70R; Peroxisomal membrane protein 1-like; Peroxisomal membrane protein 69; PMP69; PMP70-related protein; PXMP1-L
Gene Aliases: ABC41; ABCD4; EST352188; MAHCJ; P70R; P79R; PMP69; PXMP1L
UniProt ID: (Human) O14678
Entrez Gene ID: (Human) 5826
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