CDH23
Sign in to saveAlso known as CDHR23, USH1D, cadherin-related 23, cadherin related 23, PITA5
Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.
Gene data
CDH23- Name
- cadherin related 23
- Type
- protein-coding
- Aliases
- CDHR23, PITA5, USH1D
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. [provided by RefSeq, May 2013].
via MyGene.info
Gene · Ensembl
cadherin related 23
- Symbol
- CDH23
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:71,396,884-71,815,947
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein CDH23 PDB 2KBR.png
Show 5 more facts
- HomoloGene ID
- 11142
- exact match
- identifiers.org/ncbigene/64072
- genomic end
- 73575702
- genomic start
- 71396920
- cytogenetic location
- 10q22.1
via Wikidata · CC0
~1 min read
Article
6 sectionsContents
- Function
- Clinical significance
- Interactions
- References
- Further reading
- External links
Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.
== Function ==