|Other Names||AF4/FMR2 family member 2, Fragile X E mental retardation syndrome protein, Fragile X mental retardation 2 protein, FMR2P, Protein FMR-2, Protein Ox19, AFF2, FMR2, OX19|
|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.|
|Function||RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.|
|Cellular Location||Nucleus speckle. Note=When splicing is inhibited, accumulates in enlarged speckles|
|Tissue Location||Brain (most abundant in hippocampus and amygdala), placenta and lung|
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This gene encodes a putative transcriptional activatorthat is a member of the AF4FMR2 gene family. This gene isassociated with the folate-sensitive fragile X E locus onchromosome X. A repeat polymorphism in the fragile X E locusresults in silencing of this gene causing Fragile X E syndrome.Fragile X E syndrome is a form of nonsyndromic X-linked mentalretardation. Alternate splicing results in multiple transcriptvariants.
Bensaid, M., et al. Nucleic Acids Res. 37(4):1269-1279(2009)Brylawski, B.P., et al. Exp. Mol. Pathol. 82(2):190-196(2007)Sharma, D., et al. Genet. Epidemiol. 20(1):129-144(2001)Hillman, M.A., et al. J. Hum. Genet. 46(5):251-259(2001)Musumeci, S.A., et al. Clin Neurophysiol 111(9):1632-1636(2000)
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