Gene Symbol | CDHR1 |
Entrez Gene ID | 92211 |
Full Name | cadherin related family member 1 |
Synonyms | CORD15,PCDH21,PRCAD,RP65 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Cone-rod dystrophy 15, 613660 (3); Retinitis pigmentosa 65, 613660 (3) |