HERC2 Mouse, Unlabeled, Clone: 17, BD

Description

• 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
• Western Blotting