8k7b | pdb_00008k7b

post-occluded structure of human ABCB6 W546A mutant (ADP/VO4-bound)

Structural highlights

8k7b is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	Electron Microscopy, Resolution 3.9Å
Ligands:	AOV, MG, PEV
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

ABCB6_HUMAN Ocular coloboma;Dyschromatosis universalis;Colobomatous microphthalmia. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. ABCB6 mutations are involved in familial pseudohyperkalemia, a dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape (PubMed:23180570).^[1]

Function

ABCB6_HUMAN Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.^[2] ^[3]

References

↑ Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol. 2013 Jan;88(1):66-72. doi: 10.1002/ajh.23357. Epub 2012 Nov 24. PMID:23180570 doi:https://dx.doi.org/10.1002/ajh.23357
↑ Mitsuhashi N, Miki T, Senbongi H, Yokoi N, Yano H, Miyazaki M, Nakajima N, Iwanaga T, Yokoyama Y, Shibata T, Seino S. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. J Biol Chem. 2000 Jun 9;275(23):17536-40. PMID:10837493
↑ Krishnamurthy PC, Du G, Fukuda Y, Sun D, Sampath J, Mercer KE, Wang J, Sosa-Pineda B, Murti KG, Schuetz JD. Identification of a mammalian mitochondrial porphyrin transporter. Nature. 2006 Oct 5;443(7111):586-9. Epub 2006 Sep 27. PMID:17006453 doi:https://dx.doi.org/10.1038/nature05125

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OCA

[1] Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol. 2013 Jan;88(1):66-72. doi: 10.1002/ajh.23357. Epub 2012 Nov 24. PMID:23180570 doi:https://dx.doi.org/10.1002/ajh.23357

[2] Mitsuhashi N, Miki T, Senbongi H, Yokoi N, Yano H, Miyazaki M, Nakajima N, Iwanaga T, Yokoyama Y, Shibata T, Seino S. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. J Biol Chem. 2000 Jun 9;275(23):17536-40. PMID:10837493

[3] Krishnamurthy PC, Du G, Fukuda Y, Sun D, Sampath J, Mercer KE, Wang J, Sosa-Pineda B, Murti KG, Schuetz JD. Identification of a mammalian mitochondrial porphyrin transporter. Nature. 2006 Oct 5;443(7111):586-9. Epub 2006 Sep 27. PMID:17006453 doi:https://dx.doi.org/10.1038/nature05125

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8k7b | pdb_00008k7b

post-occluded structure of human ABCB6 W546A mutant (ADP/VO4-bound)

Structural highlights

Disease

Function

References

Contents

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