MMAA Knowpia

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
Gene location (Human)
Chr.	Chromosome 4 (human)
End	145,660,033 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	80,021,566 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; tibialis anterior muscle; ; pancreatic ductal cell; ; deltoid muscle; ; right lobe of liver; ; islet of Langerhans; ; endothelial cell; ; rectum; ; biceps brachii; ; jejunal mucosa;
	Top expressed in
	interventricular septum; ; saccule; ; ascending aorta; ; proximal tubule; ; aortic valve; ; motor neuron; ; Paneth cell; ; brown adipose tissue; ; soleus muscle; ; myocardium of ventricle;
	More reference expression data
	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
	166785
	109136
	ENSG00000151611
	ENSMUSG00000037022
	Q8IVH4; Q495G5
	Q8C7H1
	NM_172250; NM_001375644
	NM_133823; NM_001363470; NM_001363471; NM_001363472
	NP_758454
	NP_598584; NP_001350399; NP_001350400; NP_001350401
	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 edit

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 edit

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

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000151611 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037022 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b 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.
^ "Entrez Gene: MMAA methylmalonic aciduria (cobalamin deficiency) cblA type".
^ 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 edit

GeneReviews/NCBI/NIH/UW entry on Methylmalonic Acidemia

Further reading edit

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.