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The protein encoded by ABCD4 is a member of the superfamily of ATP-binding cassette (ABC) transporters.
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Human Polyclonal ABCD4 Primary Antibody for ELISA, WB - ABIN451659
Asheuer, Bieche, Laurendeau, Moser, Hainque, Vidaud, Aubourg: Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. in Human molecular genetics 2005
Human Polyclonal ABCD4 Primary Antibody for IHC, IHC (p) - ABIN4277208
Coelho, Kim, Miousse, Fung, du Moulin, Buers, Suormala, Burda, Frapolli, Stucki, Nürnberg, Thiele, Robenek, Höhne, Longo, Pasquali, Mengel, Watkins, Shoubridge, Majewski, Rosenblatt, Fowler, Rutsch et al.: Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. ... in Nature genetics 2012
endogenous ABCD4 was localized to both lysosomes and the ER, and its lysosomal localization was disturbed by knockout of LMBRD1 (显示 LMBRD1 抗体)
Data suggest that ABCD4 lysosomal targeting depends on co-expression of and interaction with LMBRD1; mutations in LMBRD1 and ABCD4 that result in cobalamin metabolism disorders cblF and cblJ (or mutations in ATPase domain) disrupt interactions between LMBRD1 and ABCD4. (LMBRD1 = nuclear export signal-interacting protein; ABCD4 = ATP-binding cassette, sub-family D (ALD), member 4)
ABCD1 (显示 ABCD1 抗体) and ABCD2 (显示 Abcd2 抗体) are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 (显示 ABCD3 抗体) is involved in the transport of branched chain acyl-CoA (显示 GNPAT 抗体) into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 (显示 NDUFB3 抗体) from lysosomes into the cytosol.
Results propose a model whereby membrane-bound LMBD1 (显示 LMBRD1 抗体) and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 (显示 NDUFB3 抗体) to cytoplasmic MMACHC (显示 MMACHC 抗体).
mutations altering the putative ATPase (显示 ATP13A2 抗体) domain of ABCD4 affect its function, suggesting that the ATPase (显示 DNAH8 抗体) activity of ABCD4 may be involved in intracellular processing of vitamin B12 (显示 NDUFB3 抗体).
Defects in ABCB4 (显示 ABCB4 抗体) have been found to cause progressive familial intrahepatic cholestasis type 3.
P70R resides in the ER but not the peroxisomal membranes, and the hydrophobic property of NH(2)-terminal region determines the subcellular localization of ABC (显示 ABCB6 抗体) subfamily D (显示 CYP 抗体) proteins.
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. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding.
69 kDa peroxisomal ABC-transporter
, ATP-binding cassette sub-family D member 4
, PMP70-related protein
, peroxisomal membrane protein 69
, ATP-binding cassette, sub-family D (ALD), member 4
, ATP-binding cassette, sub-family D, member 4
, peroxisomal membrane protein, 70 kDa-related
, ATP-binding cassette sub-family D member 4-like