|Other Names||Pleckstrin homology-like domain family A member 2, Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein, Imprinted in placenta and liver protein, Tumor-suppressing STF cDNA 3 protein, Tumor-suppressing subchromosomal transferable fragment candidate gene 3 protein, p17-Beckwith-Wiedemann region 1 C, p17-BWR1C, PHLDA2, BWR1C, HLDA2, IPL, TSSC3|
|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||BWR1C, HLDA2, IPL, TSSC3|
|Function||Plays a role in regulating placenta growth. May act via its PH domain that competes with other PH domain-containing proteins, thereby preventing their binding to membrane lipids (By similarity).|
|Cellular Location||Cytoplasm. Membrane; Peripheral membrane protein|
|Tissue Location||Expressed in placenta and adult prostate gland. In placenta, it is present in all cells of the villous cytotrophoblast. The protein is absent in cells from hydatidiform moles. Hydatidiform mole is a gestation characterized by abnormal development of both fetus and trophoblast. The majority of hydatidiform moles are associated with an excess of paternal to maternal genomes and are likely to result from the abnormal expression of imprinted genes (at protein level). Expressed at low levels in adult liver and lung, and fetal liver. Expressed in adult brain and neuroblastoma, medullablastoma and glioblastoma cell lines.|
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This gene is located in a cluster of imprinted genes onchromosome 11p15.5, which is considered to be an important tumorsuppressor gene region. Alterations in this region may beassociated with the Beckwith-Wiedemann syndrome, Wilms tumor,rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, andbreast cancer. This gene has been shown to be imprinted, withpreferential expression from the maternal allele in placenta andliver.
O'Seaghdha, C.M., et al. Hum. Mol. Genet. 19(21):4296-4303(2010)Edenberg, H.J., et al. Alcohol. Clin. Exp. Res. 34(5):840-852(2010)Sugiyama, N., et al. Mol. Cell Proteomics 6(6):1103-1109(2007)Tang, K.F., et al. Biochim. Biophys. Acta 1770(5):820-825(2007)Bertheau, P., et al. PLoS Med. 4 (3), E90 (2007) :
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