MMAB

For other uses, see MMAB (disambiguation).

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; OMA:MMAB - orthologs
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 114,569,095 bp[2] End 114,582,121 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver right adrenal cortex left adrenal gland left adrenal cortex apex of heart C1 segment pancreatic ductal cell mucosa of transverse colon right auricle of heart olfactory zone of nasal mucosa Top expressed in lumbar spinal ganglion muscle of thigh interventricular septum otic vesicle neural layer of retina saccule right kidney ascending aorta myocardium of ventricle neural tube More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding cob(I)yrinic acid a,c-diamide adenosyltransferase activity ATP binding protein binding cobalamin binding Cellular component mitochondrial matrix mitochondrion Biological process cobalamin metabolic process cobalamin biosynthetic process 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: 114.57 – 114.58 Mb PubMed search [3] [4]
Wikidata
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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]