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.
Hum Mol Genet. 1999 Mar;8(3):533-42. doi: 10.1093/hmg/8.3.533.
Hum Mol Genet. 1999.
PMID: 9949213