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CDHR1

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]
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Group enriched (Cone photoreceptor cells, Rod photoreceptor cells)

Immune cell specificity

Immune cell enriched (NK-cell)

Cell line specificity

Cell line enhanced (HAP1, HEK93, HEL, K-562, NTERA-2, RPTEC TERT1)

Interaction

Interacts with PROM1.

Molecular function

Receptor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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