What does this protein make up or do? Chromosome 10 DNA Sequence Chromosome 419,014 bp Name of Protein 10 Name of Gene Cadherin CDH23 transcription Amino acid sequence mRNA 530 aa What does this protein make up or do? translation They play important roles in cell adhesion, forming adherens junctions to bind cells within tissues together. Condition/Disease Usher Syndrome

Description of Usher Syndrome Symptoms and characteristics Born with Usher Syndrome is type 1. hearing loss and an eye disorder called retinitis pigmentosa. Retinitis pigmentosa causes night-blindness and a loss of peripheral vision through the progressive degeneration of the retina. Normal Retina Retina of a patient with Usher Syndrome http://www.nidcd.nih.gov/health/hearing/pages/usher.aspx

Description of Usher syndrome Who is affected? Mainly children; 3 to 6 percent of all children who are deaf and another 3 to 6 percent of children who are hard-of-hearing have Usher syndrome. Most cases of type 3 come from Finland. Those who are either deaf or blind are represented to have usher syndrome. Genetically inherited by parents. Outlook or quality of life Have to get a cochlear implant to live a more independent easy life. Cant see and/or hear. Communicate with sign language Hearing aids sometime helps for some patients but not always. Researcher: PG

References http://ghr.nlm.nih.gov/gene/CDH23 http://www.nature.com/nature/journal/v449/n7158/full/nature06091.html http://www.ncbi.nlm.nih.gov/gene?cmd=retrieve&dopt=default&list_uids=64072 www.medicinenet.com/usher_syndrome/page2.htm http://www.jneurosci.org/content/32/2/490 www.medicinenet.com/usher_syndrome/article.htm