CDHR1

CDHR1 (Cadherin Related Family Member 1) is a protein coding gene. Diseases associated with CDHR1 include Cone-Rod Dystrophy 15 and Fundus Dystrophy. Gene Ontology annotations related to this gene include calcium ion binding. An important paralog of the gene is CDHR2.

Full Name

Cadherin Related Family Member 1

Function

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

Biological Process

Cell adhesion Source: GO_Central
Homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
Photoreceptor cell maintenance Source: UniProtKB
Photoreceptor cell morphogenesis Source: UniProtKB
Photoreceptor cell outer segment organization Source: UniProtKB

Cellular Location

Cell membrane. Localized at the junction between the inner and outer segments of rod and cone photoreceptors cells. Confined to the base of the OS. Localized on the edges of nascent evaginating disks on the side of the OS opposite the connecting cilium. Expressed at postnatal day 2 at the apical tip of the rod photoreceptor cells, the site of the developing OS. Colocalized with rhodopsin between postnatal days 2 and 9 at the base of the growing OS region (By similarity).

Involvement in disease

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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Topology

Extracellular: 20-700
Helical: 701-721
Cytoplasmic: 722-859

PTM

Undergoes proteolytic cleavage; produces a soluble 95 kDa N-terminal fragment and a 25 kDa cell-associated C-terminal fragment.