|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
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This gene encodes a transmembrane protein containing sixepidermal growth factor repeats. The protein is involved in thedifferentiation of several cell types, including adipocytes; it isalso thought to be a tumor suppressor. It is one of severalimprinted genes located in a region of on chr 14q32. Certainmutations in this imprinted region can cause phenotypes similar tomaternal and paternal uniparental disomy of chromosome 14 (UPD14).This gene is expressed from the paternal allele. A polymorphismwithin this gene has been associated with child and adolescentobesity. The mode of inheritance for this polymorphism is polaroverdominance; this non-Mendelian inheritance pattern was firstdescribed in sheep with the callipyge phenotype, which ischaracterized by muscle hypertrophy and decreased fat mass.
Yanai, H., et al. J. Biochem. 148(1):85-92(2010)Yu, F., et al. Liver Int. 30(5):703-714(2010)Akiyama, J., et al. Biochem. Biophys. Res. Commun. 393(4):662-667(2010)Wermter, A.K., et al. Eur. J. Hum. Genet. 16(9):1126-1134(2008)Charlier, C., et al. Genome Res. 11(5):850-862(2001)
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