|Other Names||Glomulin, FK506-binding protein-associated protein, FAP, FKBP-associated protein, GLMN, FAP48, FAP68, VMGLOM|
|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.|
|Synonyms||FAP48, FAP68, VMGLOM|
|Function||Essential for normal development of the vasculature. May represent a naturally occurring ligand of the immunophilins FKBP59 and FKBP12. May function as an membrane anchoring protein. Isoform 1 may stimulate the p70S6K pathway. Isoform 2 may inhibit cell proliferation and increase IL2 production.|
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This gene encodes a phosphorylated protein that is amember of a Skp1-Cullin-F-box-like complex. The protein isessential for normal development of the vasculature and mutationsin this gene have been associated with glomuvenous malformations,also called glomangiomas. Alternatively spliced variants thatencode different protein isoforms have been described but thefull-length nature of only one has been determined. [provided byRefSeq].
Arai, T., et al. Proc. Natl. Acad. Sci. U.S.A. 100(17):9855-9860(2003)Brouillard, P., et al. Clin. Genet. 63(5):340-351(2003)Krummrei, U., et al. Proc. Natl. Acad. Sci. U.S.A. 100(5):2444-2449(2003)Brouillard, P., et al. Am. J. Hum. Genet. 70(4):866-874(2002)Grisendi, S., et al. J. Biol. Chem. 276(49):46632-46638(2001)
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