AMPD1 (Adenosine Monophosphate Deaminase 1 (Isoform M), MAD, MADA, Adenosine Monophosphate Deaminase-1 (Muscle), OTTHUMP00000059283)

The AMPD1 gene provides instructions for producing an enzyme called adenosine monophosphate deaminase. This enzyme is found in the muscles used for movement (skeletal muscles), where it plays a role in the production of energy. Specifically, this enzyme converts a molecule called adenosine monophosphate (AMP) to a molecule called inosine monophosphate (IMP) as part of a process that produces energy within muscle cells. \n\nAt least eight mutations in the AMPD1 gene have been found to cause AMP deaminase deficiency. Most cases are caused by a mutation that results in a premature stop signal in the instructions for making AMP deaminase (written as Gly12Ter or Q12X). The resulting enzyme is abnormally short and cannot fulfill its role in the process of energy production in skeletal muscle cells. A lack of functional enzyme can cause muscles to tire easily during physical activity, leading to muscle weakness or pain in some people with AMP deaminase deficiency. Other people with mutations in this gene never experience any signs and symptoms associated with AMP deaminase deficiency.\n\nApplications: \nSuitable for use in ELISA. Other applications not tested.\n\nRecommended Dilution:\nELISA: 1:1000 \nOptimal dilutions to be determined by the researcher.\n\nStorage and Stability:\nMay be stored at 4 degrees C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and store at -20 degrees C. Aliquots are stable for at least 12 months at -20 degrees C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

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SPECIFICATIONS

Catalog Number

A5801

Size

100ug

Applications

ELISA

Hosts

Goat

Reactivities

Hum, Mouse, Rat, Bov, Can, Prc

Form

Supplied as a liquid in Tris-saline, pH 7.2, 0.5% BSA, 0.02% sodium azide.

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

References

1. Hand BD, Roth SM, Roltsch MH, Park JJ, Kostek MC, Ferrell RE, Brown MD. AMPD1 gene polymorphism and the vasodilatory response to ischemia. Life Sci. 2006 Sep 5;79(15):1413-8. Epub 2006 May 16.

Additional Info

Recognizes AMPD1. Species Crossreactivity: Bovine, canine, mouse, porcine and rat.