MMAA

For other uses, see MMAA (disambiguation).

Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.^[5]

MMAA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2WWW
Identifiers
Aliases	MMAA, cblA, methylmalonic aciduria (cobalamin deficiency) cblA type, metabolism of cobalamin associated A
External IDs	OMIM: 607481; MGI: 1923805; HomoloGene: 14586; GeneCards: MMAA; OMA:MMAA - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q31.21 Start 145,599,042 bp[1] End 145,660,033 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 C1 Start 79,990,227 bp[2] End 80,021,566 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte tibialis anterior muscle pancreatic ductal cell testicle deltoid muscle gonad right lobe of liver islet of Langerhans endothelial cell buccal mucosa cell Top expressed in interventricular septum saccule otic vesicle right kidney ascending aorta proximal tubule aortic valve motor neuron Paneth cell brown adipose tissue More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding hydrolase activity GTPase activity protein binding GTP binding identical protein binding protein homodimerization activity Cellular component mitochondrial matrix mitochondrion intracellular anatomical structure Biological process cobalamin metabolic process cobalamin biosynthetic process short-chain fatty acid catabolic process phosphorelay signal transduction system signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 166785 109136 Ensembl ENSG00000151611 ENSMUSG00000037022 UniProt Q8IVH4 Q495G5 Q8C7H1 RefSeq (mRNA) NM_172250 NM_001375644 NM_133823 NM_001363470 NM_001363471 NM_001363472 RefSeq (protein) NP_758454 NP_598584 NP_001350399 NP_001350400 NP_001350401 Location (UCSC) Chr 4: 145.6 – 145.66 Mb Chr 8: 79.99 – 80.02 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase.^[6]

Clinical significance

Mutations in the MMAA gene are associated with methylmalonic acidemia.^[5][7]