MMAB

Methylmalonic aciduria (cobalamin deficiency) cblB type
PDB rendering based on 2idx.[1]
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2IDX​
Identifiers
Symbols	MMAB ; ATR; CFAP23; cblB; cob
External IDs	OMIM: 607568 MGI: 1924947 HomoloGene: 12680 GeneCards: MMAB Gene
EC number	2.5.1.17
Gene ontology Molecular function • ATP binding • cob(I)yrinic acid a,c-diamide adenosyltransferase activity Cellular component • mitochondrial matrix Biological process • vitamin metabolic process • water-soluble vitamin metabolic process • cobalamin metabolic process • cobalamin biosynthetic process • small molecule metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	326625	77697
Ensembl	ENSG00000139428	ENSMUSG00000029575
UniProt	Q96EY8	Q9D273
RefSeq (mRNA)	NM_052845	NM_029956
RefSeq (protein)	NP_443077	NP_084232
Location (UCSC)	Chr 12: 109.55 – 109.57 Mb	Chr 5: 114.43 – 114.44 Mb
PubMed search

Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial is an enzyme that in humans is encoded by the MMAB gene.^[2][3][4]

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.^[4]

Clinical significance

Mutations in the gene are the cause of vitamin B₁₂-dependent methylmalonic aciduria linked to the cblB complementation group.^[4]

References

1. Schubert, H. L.; Hill, C. P. (2006). "Structure of ATP-bound human ATP:cobalamin adenosyltransferase". Biochemistry 45 (51): 15188–96. doi:10.1021/bi061396f. PMC 2532598. PMID 17176040.
2. Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA (Dec 2002). "Identification of the gene responsible for the cblB complementation group of vitamin B₁₂-dependent methylmalonic aciduria". Hum Mol Genet 11 (26): 3361–9. doi:10.1093/hmg/11.26.3361. PMID 12471062.
3. Leal NA, Park SD, Kima PE, Bobik TA (Mar 2003). "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant". J Biol Chem 278 (11): 9227–34. doi:10.1074/jbc.M212739200. PMID 12514191.
4. "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type".

External links

• GeneReviews/NCBI/NIH/UW entry on Methylmalonic Acidemia

Further reading

• Willer CJ, Sanna S, Jackson AU, et al. (2008). "Newly identified loci that influence lipid concentrations and risk of coronary artery disease.". Nat. Genet. 40 (2): 161–9. doi:10.1038/ng.76. PMID 18193043.
• Hörster F, Baumgartner MR, Viardot C, et al. (2007). "Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).". Pediatr. Res. 62 (2): 225–30. doi:10.1203/PDR.0b013e3180a0325f. PMID 17597648.
• Keeratichamroen S, Cairns JR, Sawangareetrakul P, et al. (2007). "Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.". Biochem. Genet. 45 (5-6): 421–30. doi:10.1007/s10528-007-9085-y. PMID 17410422.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Martínez MA, Rincón A, Desviat LR, et al. (2005). "Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.". Mol. Genet. Metab. 84 (4): 317–25. doi:10.1016/j.ymgme.2004.11.011. PMID 15781192.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Leal NA, Olteanu H, Banerjee R, Bobik TA (2005). "Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase.". J. Biol. Chem. 279 (46): 47536–42. doi:10.1074/jbc.M405449200. PMID 15347655.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.". Genomics 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.