1. 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

2. 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

3. 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

4. References http://ghr.nlm.nih.gov/gene/CDH23