CDHR1 gene

cadherin related family member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cone-rod dystrophy 15

From UniProt:

Cone-rod dystrophy 15 (CORD15): An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. [MIM:613660]

Cytogenetic Location: 10q23.1, which is the long (q) arm of chromosome 10 at position 23.1

Molecular Location: base pairs 84,194,635 to 84,219,621 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q23.1, which is the long (q) arm of chromosome 10 at position 23.1
  • CORD15
  • PCDH21
  • PRCAD
  • RP65