Cytochrome B5 Reductase 3: The CYB5R3 gene provides instruction for making an enzyme called cytochrome b5 reductase 3.
genes
References
Arikoglu T, Yarali N, Kara A, Bay A, Bozkaya IO, Tunc B, Percy MJ. A novelL218P mutation in NADH-cytochrome b5 reductase associated with type I recessivecongenital methemoglobinemia. Pediatr Hematol Oncol. 2009 Jul-Aug;26(5):381-5.doi: 10.1080/08880010902979233.
Blanke KL, Sacco JC, Millikan RC, Olshan AF, Luo J, Trepanier LA.Polymorphisms in the carcinogen detoxification genes CYB5A and CYB5R3 and breast cancer risk in African American women. Cancer Causes Control. 2014Nov;25(11):1513-21. doi: 10.1007/s10552-014-0454-7.
Fermo E, Bianchi P, Vercellati C, Marcello AP, Garatti M, Marangoni O,Barcellini W, Zanella A. Recessive hereditary methemoglobinemia: two novelmutations in the NADH-cytochrome b5 reductase gene. Blood Cells Mol Dis. 2008Jul-Aug;41(1):50-5. doi: 10.1016/j.bcmd.2008.02.002.
Fuller TD, Spracklen CN, Ryckman KK, Knake LA, Busch TD, Momany AM, Murray JC,Dagle JM. Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy. Pediatr Res. 2015Mar;77(3):472-6. doi: 10.1038/pr.2014.206.
Hudspeth MP, Joseph S, Holden KR. A novel mutation in type IImethemoglobinemia. J Child Neurol. 2010 Jan;25(1):91-3. doi:10.1177/0883073809336136.
Lorenzo FR 5th, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL,Prchal JT. Molecular basis of two novel mutations found in type Imethemoglobinemia. Blood Cells Mol Dis. 2011 Apr 15;46(4):277-81. doi:10.1016/j.bcmd.2011.01.005.
Warang PP, Kedar PS, Shanmukaiah C, Ghosh K, Colah RB. Clinical spectrum andmolecular basis of recessive congenital methemoglobinemia in India. Clin Genet.2015;87(1):62-7. doi: 10.1111/cge.12326.
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