Property Summary

NCBI Gene PubMed Count 68
Grant Count 53
R01 Count 23
Funding $5,044,583.99
PubMed Score 292.98
PubTator Score 393.66

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
psoriasis 1.500 0.000
osteosarcoma 1.409 0.001
atypical teratoid / rhabdoid tumor -1.100 0.001
glioblastoma -1.100 0.004
medulloblastoma, large-cell -1.700 0.000
ulcerative colitis -1.304 0.005
pancreatic ductal adenocarcinoma liver m... -1.757 0.004
lung cancer -1.100 0.004
ovarian cancer -1.700 0.000

Gene RIF (33)

PMID Text
27060300 Two novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), are associated with methylmalonic academia in a Chinese family.
26454439 In methylmalonic acidemia,a total of 10 novel MUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation.
26449400 a novel splice site mutation in intron 12 of the MUT gene is a potential highly pathogenic allele via inhibition of alternative splicing leading to Methylmalonic aciduria.
26370686 3 Patients with Isolated methylmalonic acidemia lacked methylmalonyl-CoA mutase (MCM) activity and had no MCM band, patients with the cobalamin defects had high MCM activity levels and an intense MCM band at about 83 kDa, in comparison to those in their parents.
25982642 Five different known mutations in either MUT or MMACHC genes were identified in seven of the eight Chinese patients with methyl malonic acidemia.
25125334 data stratify MUT missense mutations into categories of biochemical defects, including (1) reduced protein level due to misfolding, (2) increased thermolability, (3) impaired enzyme activity, and (4) reduced cofactor response in substrate turnover
24406457 Mutations in MUT cause methylmalonic acidemia.
24330302 This is the first description of a homozygous mutation in the N-terminal extended segment of the MCM apoenzyme.
23873214 Using alanine-scanning mutagenesis, we demonstrate that the switch III motif is critical for bidirectional signal transmission of the GTPase-activating protein activity of MCM and the chaperone functions of MeaB in the MeaB-MCM complex.
23311430 The contribution of Glu338 in human MCM to adenosylcobalamin Co-C bond labilization and catalysis was evaluated by substituting the residue with a glutamine, aspartate, or alanine. The MCM variants showed 16-, 330-, and 12-fold reductions in k(cat).
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AA Sequence

MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLIWHTPEGISIK      1 - 70
PLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDL     71 - 140
ATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLANFIVTGEEQGVPK    141 - 210
EKLTGTIQNDILKEFMVRNTYIFPPEPSMKIIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYT    211 - 280
LADGLEYSRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAH    281 - 350
CQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPK    351 - 420
VADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARIDSGSEVIVGVN    421 - 490
KYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTECAASGDGNILALAVDASRARC    491 - 560
TVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSAIKRVHKFMEREGRRPRLLVAKMGQDGHDRG    561 - 630
AKVIATGFADLGFDVDIGPLFQTPREVAQQAVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVM    631 - 700
CGGVIPPQDYEFLFEVGVSNVFGPGTRIPKAAVQVLDDIEKCLEKKQQSV                        701 - 750
//

Text Mined References (73)

PMID Year Title
27167370 2016 Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
27060300 2016 [Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26615597 2016 Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
26454439 2015 Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.
26449400 2016 Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
26370686 2015 Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.
25982642 2015 Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25125334 2014 Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
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