MMAB

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Methylmalonic aciduria (cobalamin deficiency) cblB type
Protein MMAB PDB 2idx.png
PDB rendering based on 2idx.[1]
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MMAB ; ATR; CFAP23; cblB; cob
External IDs OMIM607568 MGI1924947 HomoloGene12680 GeneCards: MMAB Gene
EC number 2.5.1.17
RNA expression pattern
PBB GE MMAB gnf1h01170 at tn.png
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:
109.99 – 110.01 Mb
Chr 5:
114.43 – 114.44 Mb
PubMed search [1] [2]


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[edit]

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[edit]

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

References[edit]

  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.  edit
  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. ^ a b c "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type". 

External links[edit]

Further reading[edit]