MMAB

For other uses, see MMAB (disambiguation).

Methylmalonic aciduria (cobalamin deficiency) cblB type
250px PDB rendering based on 2idx.
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
File: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: 109.55 – 109.57 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.

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.

Clinical significance

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

External links

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