Gene: C10orf105
Alternate names for this Gene: -
Gene Summary:
Gene is located in Chromosome: 10
Location in Chromosome : 10q22.1
Description of this Gene: chromosome 10 open reading frame 105
Type of Gene: protein-coding
Gene: CDH23
Alternate names for this Gene: CDHR23|PITA5|USH1D
Gene Summary: This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described.
Gene is located in Chromosome: 10
Location in Chromosome : 10q22.1
Description of this Gene: cadherin related 23
Type of Gene: protein-coding
rs368487578 in
C10orf105;CDH23 gene and
USHER SYNDROME, TYPE ID
PMID 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
PMID 16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
PMID 12075507 2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
PMID 11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
PMID 18429043 2008 Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.