MMAA

For other uses, see MMAA (disambiguation).

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
View/Edit Human View/Edit Mouse

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

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]}

References

1. GRCh38: Ensembl release 89: ENSG00000151611 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037022 – 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, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA (November 2002). "Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements". Proc. Natl. Acad. Sci. U.S.A. 99 (24): 15554–9. Bibcode:2002PNAS...9915554D. doi: 10.1073/pnas.242614799 . PMC   137755 . PMID   12438653.
6. "Entrez Gene: MMAA methylmalonic aciduria (cobalamin deficiency) cblA type".
7. Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS (December 2004). "Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism". Hum. Mutat. 24 (6): 509–16. doi: 10.1002/humu.20104 . PMID   15523652. S2CID   34883155.

External links

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

Further reading

• Padovani D, Labunska T, Banerjee R (2006). "Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase". J. Biol. Chem. 281 (26): 17838–44. doi: 10.1074/jbc.M600047200 . PMID   16641088.
• 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.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Yang X, Sakamoto O, Matsubara Y, et al. (2004). "Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation". Mol. Genet. Metab. 82 (4): 329–33. doi:10.1016/j.ymgme.2004.05.002. PMID   15308131.
• Merinero B, Pérez B, Pérez-Cerdá C, et al. (2008). "Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group". J. Inherit. Metab. Dis. 31 (1): 55–66. doi:10.1007/s10545-007-0667-y. hdl: 10553/49375 . PMID   17957493. S2CID   26112025.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• 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.
• Honjo RS, Casella EB, Vieira MA, et al. (2009). "Spondylocostal dysostosis associated with methylmalonic aciduria". Genet Test Mol Biomarkers. 13 (2): 181–3. doi:10.1089/gtmb.2008.0069. PMID   19371216.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.