Gene: CDHR1

Alternate names for this Gene: CORD15|PCDH21|PRCAD|RP65

Gene 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.1

Description of this Gene: cadherin related family member 1

Type of Gene: protein-coding

rs781781440 in CDHR1 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs147346345 in CDHR1 gene and Retinal Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 20087419 2010 Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.

rs794727197 in CDHR1 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.