Human Methylenetetrahydrofolate reductase ELISA Kit | MTHFR elisa kit

Human Methylenetetrahydrofolate reductase ELISA Kit

Cat. Num. AAA2887469

• Reactivity: Human
• Synonyms: Methylenetetrahydrofolate reductase; Human Methylenetetrahydrofolate reductase ELISA Kit; MTHFR; 1.5.1.20; MTHFR elisa kit

• Reactivity: Human
• Sequence Length: 656

• Assay Type: Sandwich
• Detection Range: 0.78-50 ng/mL
• Sensitivity: 0.28ng/mL
• Intra-Assay CV: <=5.1%
• Inter-Assay CV: <=8.2%
• Recovery: 86%
• Preparation and Storage: For long term storage, please store the entire kit at -20 degree C.

Typical Testing Data/Standard Curve (for reference only)

NCBI and Uniprot Product Information

• NCBI GI #: 87240000
• NCBI GeneID: 4524
• NCBI Accession #: NP_005948.3
• NCBI GenBank Nucleotide #: NM_005957.4
• UniProt Accession #: P42898; Q5SNW6; Q5SNW9; Q7Z6M6; Q8IU73; Q9UQR2; B2R7A6
• Molecular Weight: 78,965 Da
• NCBI Official Full Name: methylenetetrahydrofolate reductase
• NCBI Official Synonym Full Names: methylenetetrahydrofolate reductase (NAD(P)H)
• NCBI Official Symbol: MTHFR
• NCBI Protein Information: methylenetetrahydrofolate reductase
• UniProt Protein Name: Methylenetetrahydrofolate reductase
• Protein Family: Methylenetetrahydrofolate reductase
• UniProt Gene Name: MTHFR
• UniProt Entry Name: MTHR_HUMAN

NCBI Description

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

Uniprot Description

MTHFR: Catalyzes the conversion of 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co- substrate for homocysteine remethylation to methionine. Defects in MTHFR are the cause of methylenetetrahydrofolate reductase deficiency (MTHFRD). MTHFRD is autosomal recessive disorder with a wide range of features including homocysteinuria, homocysteinemia, developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. Defects in MTHFR may be a cause of susceptibility to ischemic stroke (ISCHSTR); also known as cerebrovascular accident or cerebral infarction. A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Defects in MTHFR 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. Belongs to the methylenetetrahydrofolate reductase family.

Protein type: EC 1.5.1.20; Oxidoreductase; Cofactor and Vitamin Metabolism - one carbon pool by folate; Energy Metabolism - methane

Chromosomal Location of Human Ortholog: 1p36.3

Cellular Component: cytosol; neuron projection

Molecular Function: FAD binding; methylenetetrahydrofolate reductase (NADPH) activity; NADP binding; protein complex binding

Biological Process: amino acid metabolic process; blood circulation; folic acid metabolic process; homocysteine metabolic process; methionine biosynthetic process; methionine metabolic process; regulation of histone methylation; response to drug; response to folic acid; response to hypoxia; response to vitamin B2; S-adenosylmethionine metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process

Disease: Homocystinuria Due To Deficiency Of N(5,10)-methylenetetrahydrofolate Reductase Activity; Neural Tube Defects, Folate-sensitive; Schizophrenia; Thrombophilia Due To Thrombin Defect