Scientific background: |
Insulin-like growth factor 2 receptor, also called IGF2R or I-MPR is a protein that in humans is encoded by the IGF2R gene. This gene is mapped to 6q25.3. This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate, although the binding sites for either are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. While the related mouse gene shows exclusive expression from the maternal allele, imprinting of the human gene appears to be polymorphic, with only a minority of individuals showing expression from the maternal allele. |
References: |
1. Killian, J. K., Oka, Y., Jang, H.-S., Fu, X., Waterland, R. A., Sohda, T., Sakaguchi, S., Jirtle, R. L. Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations. Hum. Mutat. 18: 25-31, 2001.
2. Latos, P. A., Pauler, F. M., Koerner, M. V., Senergin, H. B., Hudson, Q. J., Stocsits, R. R., Allhoff, W., Stricker, S. H., Klement, R. M., Warczok, K. E., Aumayr, K., Pasierbek, P., Barlow, D. P. Airn transcriptional overlap, but not its IncRNA products, induces imprinted Igf2r silencing. Science 338: 1469-1472, 2012.
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