SLC22A5 (mr.SLC22A5, CDSP, Octn2, SCD, Organic cation/carnitine transporter 2, High-affinity sodium-dependent carnitine cotransporter, Solute carrier family 22 (organic cation/carnitine transporter), member 5)

Solute carrier family 22 (organic cation/carnitine transporter), member 5, also called SLC22A5 or OCTN2 is a membrane transport protein associated with primary carnitine deficiency. This gene is mapped to 5q31.1. Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy.\n\nUniProt Number:\nQ9Z0E8\n\nGene ID:\nSLC22A5\n\nApplications:\nSuitable for use in Western Blot.\n\nRecommended Dilution:\nOptimal dilutions to be determined by the researcher.\n\nStorage and Handling:\nStore at -20?C for one year. After reconstitution, store at 4?C for one month. Can also be aliquoted and stored frozen at -20?C for long term.\nAvoid repeated freezing and thawing. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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SPECIFICATIONS

Catalog Number

144927

Size

100ug

Applications

WB

Hosts

Rabbit

Reactivities

Mouse, Rat

Form

Supplied as a lyophilized powder. Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. Reconstitution: Add 0.2ml of distilled water will yield a concentration of 500ug/ml.

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

Isotype

IgG

References

1. Dobrowolski, S. F., McKinney, J. T., di San Filippo, C. A., Sim, K. G., Wilcken, B., Longo, N. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Hum. Mutat. 25: 306-313, 2005.\n2. Heintzman, H. D., Stuart, R. K., Hon, G., Fu, Y., Ching, C. W., Hawkins, R. D., Barrera, L. O., Van Calcar, S., Qu, C., Ching, K. A., Wang, W., Weng, Z., Green, R. D., Crawford, G. E., Ren, B. Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome. Nature Genet. 39: 311-318, 2007.\n

Additional Info

Recognizes mouse and rat mr.SLC22A5. No crossreactivity with other proteins.