Cell Biology Antibodies 9
Anti-MUT Antibody (CAB3969)
- SKU:
- CAB3969
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-MUT Antibody |
Antibody SKU: | CAB3969 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IF |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 451-750 of human MUT (NP_000246.2). |
Application: | WB IF |
Recommended Dilution: | WB 1:1000 - 1:2000 IF 1:50 - 1:200 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | LO2, HeLa, BT-474, 22Rv1, Mouse liver, Mouse kidney, Mouse heart, Mouse pancreas, Rat liver |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 451-750 of human MUT (NP_000246.2). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | EMGG MAKA VAEG IPKL RIEE CAAR RQAR IDSG SEVI VGVN KYQL EKED AVEV LAID NTSV RNRQ IEKL KKIK SSRD QALA ERCL AALT ECAA SGDG NILA LAVD ASRA RCTV GEIT DALK KVFG EHKA NDRM VSGA YRQE FGES KEIT SAIK RVHK FMER EGRR PRLL VAKM GQDG HDRG AKVI ATGF ADLG FDVD IGPL FQTP REVA QQAV DADV HAVG ISTL AAGH KTLV PELI KELN SLGR PDIL VMCG GVIP PQDY EFLF EVGV SNVF GPGT RIPK AAVQ VLDD IEKC LEKK QQSV |
Gene ID: | 4594 |
Uniprot: | P22033 |
Cellular Location: | Mitochondrion matrix |
Calculated MW: | 83kDa |
Observed MW: | 83kDa |
Synonyms: | MUT, MCM |
Background: | 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. |
UniProt Protein Function: | MUT: Involved in the degradation of several amino acids, odd- chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species. Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM). MMAM is an often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy. Belongs to the methylmalonyl-CoA mutase family. |
UniProt Protein Details: | Protein type:EC 5.4.99.2; Isomerase; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Carbohydrate Metabolism - propanoate; Mitochondrial Chromosomal Location of Human Ortholog: 6p12.3 Cellular Component: mitochondrion; mitochondrial matrix Molecular Function:methylmalonyl-CoA mutase activity; metal ion binding; cobalamin binding Biological Process: vitamin metabolic process; fatty acid beta-oxidation; short-chain fatty acid catabolic process; cobalamin metabolic process; cellular lipid metabolic process; homocysteine metabolic process; water-soluble vitamin metabolic process; post-embryonic development Disease: Methylmalonic Aciduria Due To Methylmalonyl-coa Mutase Deficiency |
NCBI 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. [provided by RefSeq, Jul 2008] |
UniProt Code: | P22033 |
NCBI GenInfo Identifier: | 317373575 |
NCBI Gene ID: | 4594 |
NCBI Accession: | P22033.4 |
UniProt Related Accession: | P22033 |
Molecular Weight: | 83kDa |
NCBI Full Name: | Methylmalonyl-CoA mutase, mitochondrial |
NCBI Synonym Full Names: | methylmalonyl-CoA mutase |
NCBI Official Symbol: | MMUT |
NCBI Official Synonym Symbols: | MCM; MUT |
NCBI Protein Information: | methylmalonyl-CoA mutase, mitochondrial |
UniProt Protein Name: | Methylmalonyl-CoA mutase, mitochondrial |
UniProt Synonym Protein Names: | Methylmalonyl-CoA isomerase |
Protein Family: | Mutanase |
UniProt Gene Name: | MUT |
UniProt Entry Name: | MUTA_HUMAN |
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