Structural highlights
Disease
[ABCD4_HUMAN] Methylmalonic acidemia with homocystinuria, type cblJ. The disease is caused by mutations affecting the gene represented in this entry.
Function
[ABCD4_HUMAN] May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.[1]
References
- ↑ Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26. PMID:22922874 doi:https://dx.doi.org/10.1038/ng.2386
