MMAB

Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial is an enzyme that in humans is encoded by the MMAB gene.[5][6][7]

MMAB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2IDX
Identifiers
Aliases	MMAB, ATR, CFAP23, cblB, cob, methylmalonic aciduria (cobalamin deficiency) cblB type, metabolism of cobalamin associated B
External IDs	OMIM: 607568 MGI: 1924947 HomoloGene: 12680 GeneCards: MMAB
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q24.11 Start 109,553,715 bp[1] End 109,573,580 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 F Start 114,431,034 bp[2] End 114,444,060 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • nucleotide binding • cob(I)yrinic acid a,c-diamide adenosyltransferase activity • ATP binding • GO:0001948 protein binding • cobalamin binding Cellular component • mitochondrial matrix • mitochondrion Biological process • cobalamin metabolic process • Cobalamin biosynthesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	326625	77697
Ensembl	ENSG00000139428	ENSMUSG00000029575
UniProt	Q96EY8	Q9D273
RefSeq (mRNA)	NM_052845	NM_029956 NM_001347398
RefSeq (protein)	NP_443077	NP_001334327 NP_084232
Location (UCSC)	Chr 12: 109.55 – 109.57 Mb	Chr 5: 114.43 – 114.44 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[7]

Clinical significance

Mutations in the gene are the cause of vitamin B₁₂-dependent methylmalonic aciduria linked to the cblB complementation group.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000139428 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029575 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type".

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, 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. PMC 5206900. 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. CiteSeerX 10.1.1.509.517. doi:10.1007/s10528-007-9085-y. PMID 17410422. S2CID 20799098.
• 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.