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]

Description

Cadherin related family member 1

Tissue specificity

Group enriched (retina, skin)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

10 (84194537 - 84219621)

Ensembl ID

ENSG00000148600  (ver. 103.38)

Orthologs

Mouse Cdhr1: ENSMUSG00000021803

UniProt

Q96JP9

neXtProt

NX_Q96JP9

Human splice variants
Mouse splice variants

Protein structure