|Application ||WB, E|
|Other Accession||NP_056255.2, 25902, 270685 (mouse), 361472 (rat)|
|Reactivity||Human, Mouse, Rat|
|Calculated MW||105790 Da|
|Other Names||Monofunctional C1-tetrahydrofolate synthase, mitochondrial, 22.214.171.124, Formyltetrahydrofolate synthetase, MTHFD1L, FTHFSDC1|
|Format||0.5 mg/ml in Tris saline, 0.02% sodium azide, pH7.3 with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||MTHFD1L (aa535-538) Antibody (internal region) is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2.|
|Tissue Location||Detected in most tissues, highest expression found in placenta, thymus and brain. Low expression is found in liver and skeletal muscle. Up-regulated in colon adenocarcinoma|
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A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency. Parle-McDermott A, Pangilinan F, O'Brien KK, Mills JL, Magee AM, Troendle J, Sutton M, Scott JM, Kirke PN, Molloy AM, Brody LC, Human mutation 2009 Dec 30 (12): 1650-6. PMID: 19777576
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