Gene Review:
HERC2 - HECT and RLD domain containing E3...
Homo sapiens
Synonyms:
D15F37S1, E3 ubiquitin-protein ligase HERC2, HECT domain and RCC1-like domain-containing protein 2, MRT38, SHEP1, ...
- The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. Ji, Y., Walkowicz, M.J., Buiting, K., Johnson, D.K., Tarvin, R.E., Rinchik, E.M., Horsthemke, B., Stubbs, L., Nicholls, R.D. Hum. Mol. Genet. (1999)
- Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human. Ji, Y., Rebert, N.A., Joslin, J.M., Higgins, M.J., Schultz, R.A., Nicholls, R.D. Genome Res. (2000)
- Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Pujana, M.A., Nadal, M., Guitart, M., Armengol, L., Gratacòs, M., Estivill, X. Eur. J. Hum. Genet. (2002)
- Schizophrenia hippocampus has elevated expression of chondrex glycoprotein gene. Chung, C., Tallerico, T., Seeman, P. Synapse (2003)
- Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13. Smith, M., Filipek, P.A., Wu, C., Bocian, M., Hakim, S., Modahl, C., Spence, M.A. Am. J. Med. Genet. (2000)
- Membrane-bound progesterone receptors contain a cytochrome b5-like ligand-binding domain. Mifsud, W., Bateman, A. Genome Biol. (2002)