MMAB explained

Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial is an enzyme that in humans is encoded by the MMAB gene.^{[1] [2] [3]}

Function

This gene encodes an enzyme (cob(I)yrinic acid a,c-diamide adenosyltransferase) that catalyzes the final step in the conversion of vitamin B₁₂ into adenosylcobalamin (AdoCbl), a vitamin B₁₂-containing coenzyme for methylmalonyl-CoA mutase.^[3]

Clinical significance

Mutations in the gene are the cause of vitamin B₁₂-dependent methylmalonic aciduria linked to the cblB complementation group.^[3]

External links

• GeneReviews/NCBI/NIH/UW entry on Methylmalonic Acidemia
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Corrinoid adenosyltransferase (MMAB)

Further reading

• Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren WL, Maschio A, Busonero F, Mulas A, Albai G, Swift AJ, Morken MA, Narisu N, Bennett D, Parish S, Shen H, Galan P, Meneton P, Hercberg S, Zelenika D, Chen WM, Li Y, Scott LJ, Scheet PA, Sundvall J, Watanabe RM, Nagaraja R, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Davey-Smith G, Shuldiner AR, Collins R, Bergman RN, Uda M, Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M, Schlessinger D, Mohlke KL, Abecasis GR . 6 . Newly identified loci that influence lipid concentrations and risk of coronary artery disease . Nature Genetics . 40 . 2 . 161–169 . February 2008 . 18193043 . 5206900 . 10.1038/ng.76 .
• Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER . 6 . Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB) . Pediatric Research . 62 . 2 . 225–230 . August 2007 . 17597648 . 10.1203/PDR.0b013e3180a0325f . free .
• Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, Kamolsilp M, Wasant P, Svasti J . 6 . Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia . Biochemical Genetics . 45 . 5–6 . 421–430 . June 2007 . 17410422 . 10.1007/s10528-007-9085-y . 20799098 . 10.1.1.509.517 .
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S . 6 . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Research . 16 . 1 . 55–65 . January 2006 . 16344560 . 1356129 . 10.1101/gr.4039406 .
• Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B . Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants . Molecular Genetics and Metabolism . 84 . 4 . 317–325 . April 2005 . 15781192 . 10.1016/j.ymgme.2004.11.011 .
• Leal NA, Olteanu H, Banerjee R, Bobik TA . Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase . The Journal of Biological Chemistry . 279 . 46 . 47536–47542 . November 2004 . 15347655 . 10.1074/jbc.M405449200 . free .
• Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, Bieber FR, Morton CC . Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening . Genomics . 23 . 1 . 42–50 . September 1994 . 7829101 . 10.1006/geno.1994.1457 .

Notes and References

1. Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA . 6 . Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria . Human Molecular Genetics . 11 . 26 . 3361–3369 . December 2002 . 12471062 . 10.1093/hmg/11.26.3361 . free .
2. Leal NA, Park SD, Kima PE, Bobik TA . Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant . The Journal of Biological Chemistry . 278 . 11 . 9227–9234 . March 2003 . 12514191 . 10.1074/jbc.M212739200 . free .
3. Web site: Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type.