Aliases for CDHR1 Gene
External Ids for CDHR1 Gene
Previous HGNC Symbols for CDHR1 Gene
Previous GeneCards Identifiers for CDHR1 Gene
This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]
GeneCards Summary for CDHR1 Gene
CDHR1 (Cadherin Related Family Member 1) is a Protein Coding gene. Diseases associated with CDHR1 include Cone-Rod Dystrophy 15 and Cone-Rod Dystrophy 2. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CDHR2.
UniProtKB/Swiss-Prot Summary for CDHR1 Gene
Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity).