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Browse our anti-Methylmalonyl Coenzyme A Mutase (MUT) Antibodies

Full name:
anti-Methylmalonyl Coenzyme A Mutase Antibodies (MUT)
On www.antibodies-online.com are 21 Methylmalonyl Coenzyme A Mutase (MUT) Antibodies from 10 different suppliers available. Additionally we are shipping Methylmalonyl Coenzyme A Mutase Kits (4) and Methylmalonyl Coenzyme A Mutase Proteins (3) and many more products for this protein. A total of 31 Methylmalonyl Coenzyme A Mutase products are currently listed.
Synonyms:
D230010K02Rik, Mcm
list all antibodies Gene Name GeneID UniProt
MUT 4594 P22033
MUT 688517  
MUT 17850 P16332

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More Antibodies against Methylmalonyl Coenzyme A Mutase Interaction Partners

Human Methylmalonyl Coenzyme A Mutase (MUT) interaction partners

  1. we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB (show PCCB Antibodies), p.His194Arg, p.Val298Met in BCKDHA (show BCKDHA Antibodies) and p.Glu286_Met290del in BCKDHB (show BCKDHB Antibodies) gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants

  2. 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.

  3. 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.

  4. Five different known mutations in either MUT or MMACHC (show MMACHC Antibodies) genes were identified in seven of the eight Chinese patients with methyl malonic acidemia.

  5. 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.

  6. 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.

  7. 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

  8. Mutations in MUT cause methylmalonic acidemia.

  9. Using alanine-scanning mutagenesis, we demonstrate that the switch III motif is critical for bidirectional signal transmission of the GTPase-activating protein (show RASA1 Antibodies) activity of MCM and the chaperone functions of MeaB in the MeaB-MCM complex.

  10. The contribution of Glu338 in human MCM to adenosylcobalamin Co-C bond labilization and catalysis was evaluated by substituting the residue with a glutamine (show GFPT1 Antibodies), aspartate, or alanine. The MCM variants showed 16-, 330-, and 12-fold reductions in k(cat).

Pig (Porcine) Methylmalonyl Coenzyme A Mutase (MUT) interaction partners

Mouse (Murine) Methylmalonyl Coenzyme A Mutase (MUT) interaction partners

  1. On a high protein diet, mutant mice display disease exacerbation, including elevated blood ammonia, and catastrophic weight loss, which, in Mut(ki/ki (show AXIN1 Antibodies)) mice, is rescued by hydroxocobalamin treatment. This study expands knowledge of MMAuria, introduces the discovery of new biomarkers, and constitutes the first in vivo proof of principle of cobalamin treatment in mut-type MMAuria.

  2. The mouse methylmalonic aciduria- related genes, Mmaa (show MMAA Antibodies), Mmab (show MMAB Antibodies), and Mut may have specialized functions depending on the tissue or cell type.

  3. methylmalonyl-CoA mutase has a role in methylmalonic aciduria and early neonatal lethality

  4. Mitochondrial dysfunction in Mut is reported.

Methylmalonyl Coenzyme A Mutase (MUT) Antigen Profile

Antigen Summary

This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria.

Alternative names and synonyms associated with Methylmalonyl Coenzyme A Mutase (MUT)

  • methylmalonyl CoA mutase (MUT) antibody
  • methylmalonyl Coenzyme A mutase (mut) antibody
  • methylmalonyl CoA mutase (mut) antibody
  • methylmalonyl CoA mutase (Mut) antibody
  • methylmalonyl-Coenzyme A mutase (Mut) antibody
  • D230010K02Rik antibody
  • Mcm antibody

Protein level used designations for MUT

methylmalonyl Coenzyme A mutase , methylmalonyl-CoA mutase, mitochondrial , methylmalonyl CoA mutase , methylmalonyl-CoA isomerase , methylmalonyl-Coenzyme A mutase , MCM

GENE ID SPECIES
422049 Gallus gallus
463198 Pan troglodytes
474930 Canis lupus familiaris
569581 Danio rerio
706189 Macaca mulatta
100357233 Oryctolagus cuniculus
100379804 Xenopus (Silurana) tropicalis
4594 Homo sapiens
688517 Rattus norvegicus
399535 Sus scrofa
280871 Bos taurus
100174196 Pongo abelii
17850 Mus musculus
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