Property Summary

NCBI Gene PubMed Count 15
Grant Count 10
R01 Count 7
Funding $894,744.28
PubMed Score 157.56
PubTator Score 56.84

Knowledge Summary

Patent

No data available

Expression

Gene RIF (9)

PMID Text
23026888 Ten novel mutational MMAA variants have been identified in patients with methylmalonic aciduria.
21138732 MMAA acts as a chaperone of human MCM protein.
20876572 Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
19371216 Spondylocostal dysostosis associated with MMAA is presented in a young boy.
17957493 Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
17597648 Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB.
15523652 DNA from 37 cblA patients was analyzed for deleterious mutations in the MMAA gene by DNA sequencing of exons and flanking sequences
15308131 The 503delC mutation is prevalent in Japanese patients with methylmalonic acidemia.
12438653 A candidate gene for mutations (deletion, insertion, stop-codon, missense)in cblA patient cells was identified as MMAA on chromosome 4q31.1-2. It encodes a predicted protein of 418 AA.

AA Sequence

MPMLLPHPHQHFLKGLLRAPFRCYHFIFHSSTHLGSGIPCAQPFNSLGLHCTKWMLLSDGLKRKLCVQTT      1 - 70
LKDHTEGLSDKEQRFVDKLYTGLIQGQRACLAEAITLVESTHSRKKELAQVLLQKVLLYHREQEQSNKGK     71 - 140
PLAFRVGLSGPPGAGKSTFIEYFGKMLTERGHKLSVLAVDPSSCTSGGSLLGDKTRMTELSRDMNAYIRP    141 - 210
SPTRGTLGGVTRTTNEAILLCEGAGYDIILIETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGII    211 - 280
EMADLVAVTKSDGDLIVPARRIQAEYVSALKLLRKRSQVWKPKVIRISARSGEGISEMWDKMKDFQDLML    281 - 350
ASGELTAKRRKQQKVWMWNLIQESVLEHFRTHPTVREQIPLLEQKVLIGALSPGLAADFLLKAFKSRD      351 - 418
//

Text Mined References (15)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23026888 2012 High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
21138732 2011 Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein.
20876572 2010 Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
19371216 2009 Spondylocostal dysostosis associated with methylmalonic aciduria.
17957493 2008 Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
17597648 2007 Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
16641088 2006 Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase.
15523652 2004 Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
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