ABCD4 Antibody

1. endogenous ABCD4 was localized to both lysosomes and the ER, and its lysosomal localization was disturbed by knockout of LMBRD1 PMID: 27456980
2. 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) PMID: 28572511
3. Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC. PMID: 25535791
4. mutations altering the putative ATPase domain of ABCD4 affect its function, suggesting that the ATPase activity of ABCD4 may be involved in intracellular processing of vitamin B12. PMID: 22922874
5. Defects in ABCB4 have been found to cause progressive familial intrahepatic cholestasis type 3. PMID: 21514256
6. expression tends to be correlated with the severity of X-linked adrenoleukodystrophy PMID: 15800013

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HGNC: 68

OMIM: 603214

KEGG: hsa:5826

STRING: 9606.ENSP00000349396

UniGene: Hs.94395