ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene. [4] [5] [6] The protein encoded by this gene is a member of the superfamily of …

Mar 28, 2025 · ABCD4 (ATP Binding Cassette Subfamily D Member 4) is a Protein Coding gene. Diseases associated with ABCD4 include Methylmalonic Aciduria And Homocystinuria, Cblj …

The ABCD4 gene provides instructions for making a protein that is involved in the conversion of vitamin B12 (also known as cobalamin) into one of two molecules, adenosylcobalamin …

Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC. mutations altering the putative …

Jul 26, 2016 · In this report, it is demonstrated that ABCD4 interacts with LMBD1 and then localizes to lysosomes and this translocation depends on the lysosomal targeting ability of …

Jun 17, 2024 · 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 …

These results suggest that ABCD4 may be capable of transporting cobalamin from the lysosomal lumen to the cytosol. Furthermore, we examined a series of ABCD4 missense mutations to …

ABCD1–3 and ABCD4 are localized to peroxisomes and lysosomes, respectively. ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their …

Recently, it is reported that ABCD3 and ABCD4 are responsible for hepatosplenomegaly and vitamin B 12 deficiency, respectively. In this review, the targeting mechanism and …

The ABCD4 gene provides instructions for making a protein that is involved in the conversion of vitamin B12 (also known as cobalamin) into one of two molecules, adenosylcobalamin …