|Other Names||Transmembrane protein 43, Protein LUMA, TMEM43|
|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||May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity).|
|Cellular Location||Endoplasmic reticulum. Nucleus inner membrane; Multi-pass membrane protein. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B- lamins. The N- and C-termini are oriented towards the nucleoplasm The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity).|
|Tissue Location||Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.|
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This gene belongs to the TMEM43 family. Defects in thisgene are the cause of familial arrhythmogenic right ventriculardysplasia type 5 (ARVD5), also known as arrhythmogenic rightventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic rightventricular dysplasia is an inherited disorder, often involvingboth ventricles, and is characterized by ventricular tachycardia,heart failure, sudden cardiac death, and fibrofatty replacement ofcardiomyocytes. This gene contains a response element for PPARgamma (an adipogenic transcription factor), which may explain thefibrofatty replacement of the myocardium, a characteristicpathological finding in ARVC.
Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Barahona-Dussault, C., et al. Clin. Genet. 77(1):37-48(2010)Hodgkinson, K., et al. Genet. Med. 11(12):859-865(2009)Merner, N.D., et al. Am. J. Hum. Genet. 82(4):809-821(2008)Bengtsson, L., et al. J. Cell. Sci. 121 (PT 4), 536-548 (2008) :
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