Gene: LOC105378311

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: PCDH15

Alternate names for this Gene: CDHR15|DFNB23|USH1F

Gene Summary: This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur.

Gene is located in Chromosome: 10

Location in Chromosome : 10q21.1

Description of this Gene: protocadherin related 15

Type of Gene: protein-coding

rs1930165 in LOC105378311;PCDH15 gene and Autistic Disorder PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.

rs1937395 in LOC105378311;PCDH15 gene and Forced expiratory volume function PMID 22424883 2012 Genome-wide association study of lung function decline in adults with and without asthma.

rs1168400018 in LOC105378311;PCDH15 gene and Usher Syndrome, Type IF PMID 26166082 2015 Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.