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Prader-Willi and Angelman syndromes are genetic disorders that result from recombination between chromsome-specific low-copy repeats (duplicons). ERC2(rjs) is the transcript found in the duplicon for these disorders, and recessive mutation of HERC2 leads to a developmental syndrome in mice, referred to as runty jerky sterile (rjs) and juvenile development and fertility 2 (jdf2). HERC2 is homologous to the HERC1 and HERC3 HECT-domain containing proteins. The sequence of HERC2 includes three RCC1-like domains (RLD), a C-terminal ECT domain, and a ZZ-type zinc finger. The RCC1 repeats are similar to those found in cytochrome b5 and the HECT domain is found in E6-AP ubiquitin ligase. HERC2 may function as both a guanine nucleotide exchange factor and E3 biquitin ligase based on its conserved motifs and observation from mouse mutation studies. HERC2 mRNA is expressed highest in brain and testes, but is also found in heart, lung, liver, skeletal muscle, and kidney. Thus, HERC2 may function in protein trafficking and degradation pathways in various tissues.
研发参考 (2)
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Ji Y, Rebert NA, Joslin JM, Higgins MJ, Schultz RA, Nicholls RD. Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human. Genome Res. 2000; 10(3):319-329. (Clone-specific: Western blot). 查看参考
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Lehman AL, Nakatsu Y, Ching A. A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc Natl Acad Sci U S A. 1998; 95(16):9436-9441. (Biology). 查看参考
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