GIPC3 [SEP] chromosome
.
The human "GIPC3" gene is located on the short arm of chromosome 19 at p13.3. The locus extends over about 8 kbp and contains the six coding exons that give rise to an open reading frame of 639 nucleotides encoding the GIPC3 protein of 312 amino acids. A single PDZ domain is located at amino acid position 122-189. 
In the mouse, "Gipc3" is located on chromosome 10 at cytogenetic band qC1. The genomic region covers a distance of 5.5 kbp. The six coding
size. Besides their hearing impairment, Black Swiss mice also are hypersensitive to acoustic stimulation, reacting with seizures (audiogenic seizures) to loud white noise. A genetic locus conferring susceptibility was identified (juvenile audiogenic monogenic seizures1, "jams1") on chromosome 10. A positional cloning approach aimed to decipher the genetic basis of both the hearing loss and audiogenic seizure susceptibility subsequently identified the glycine to arginine substitution in Gipc3 as the underlying cause.
In humans, individuals with the p.W301X missense mutation (DFNB95) exhibit bilateral