Metabolism Antibodies 3
Anti-MTR Antibody (CAB9731)
- SKU:
- CAB9731
- Product Type:
- Antibody
- Applications:
- WB
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Metabolism
Description
Antibody Name: | Anti-MTR Antibody |
Antibody SKU: | CAB9731 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1056-1265 of human MTR (NP_000245.2). |
Application: | WB |
Recommended Dilution: | WB 1:200 - 1:2000 |
Reactivity: | Human, Mouse |
Positive Samples: | A-549, LO2, Mouse brain |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1056-1265 of human MTR (NP_000245.2). |
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: | AEPI ATFY GLRQ QAEK DSAS TEPY YCLS DFIA PLHS GIRD YLGL FAVA CFGV EELS KAYE DDGD DYSS IMVK ALGD RLAE AFAE ELHE RVRR ELWA YCGS EQLD VADL RRLR YKGI RPAP GYPS QPDH TEKL TMWR LADI EQST GIRL TESL AMAP ASAV SGLY FSNL KSKY FAVG KISK DQVE DYAL RKNI SVAE VEKW LGPI LGYD TD |
Gene ID: | 4548 |
Uniprot: | Q99707 |
Cellular Location: | Cytoplasm |
Calculated MW: | 134kDa/140kDa |
Observed MW: | 140kDa |
Synonyms: | MTR, HMAG, MS, cblG |
Background: | This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. |
UniProt Protein Function: | MTR: Catalyzes the transfer of a methyl group from methyl- cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate. Defects in MTR are the cause of methylcobalamin deficiency type G (cblG); also known as homocystinuria-megaloblastic anemia complementation type G. It is an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria. Mild deficiency in MS activity could be associated with mild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects. MS mutations could also be involved in tumorigenesis. Defects in MTR may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD). The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTR may affect the risk of spina bifida via the maternal rather than the embryonic genotype. Belongs to the vitamin-B12 dependent methionine synthase family. |
UniProt Protein Details: | Protein type:Amino Acid Metabolism - cysteine and methionine; EC 2.1.1.13; Methyltransferase; Cofactor and Vitamin Metabolism - one carbon pool by folate Chromosomal Location of Human Ortholog: 1q43 Cellular Component: cytoplasm; cytosol Molecular Function:homocysteine S-methyltransferase activity; protein binding; zinc ion binding; methionine synthase activity; cobalamin binding Biological Process: methylation; nervous system development; vitamin metabolic process; methionine biosynthetic process; cobalamin metabolic process; sulfur amino acid metabolic process; xenobiotic metabolic process; pteridine and derivative metabolic process; water-soluble vitamin metabolic process Disease: Homocystinuria-megaloblastic Anemia, Cblg Complementation Type; Neural Tube Defects, Folate-sensitive |
NCBI Summary: | This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] |
UniProt Code: | Q99707 |
NCBI GenInfo Identifier: | 2842762 |
NCBI Gene ID: | 4548 |
NCBI Accession: | Q99707.2 |
UniProt Secondary Accession: | Q99707,Q99713, Q99723, A1L4N8, A9Z1W4, B9EGF7, |
UniProt Related Accession: | Q99707 |
Molecular Weight: | 140,527 Da |
NCBI Full Name: | Methionine synthase |
NCBI Synonym Full Names: | 5-methyltetrahydrofolate-homocysteine methyltransferase |
NCBI Official Symbol: | MTR |
NCBI Official Synonym Symbols: | MS; HMAG; cblG |
NCBI Protein Information: | methionine synthase; cobalamin-dependent methionine synthase; vitamin-B12 dependent methionine synthase; 5-methyltetrahydrofolate-homocysteine methyltransferase 1 |
UniProt Protein Name: | Methionine synthase |
UniProt Synonym Protein Names: | 5-methyltetrahydrofolate--homocysteine methyltransferase; Vitamin-B12 dependent methionine synthase; MS |
UniProt Gene Name: | MTR |
UniProt Entry Name: | METH_HUMAN |