Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.
Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.
A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival.
Proteolytic shedding of the extracellular domain of photoreceptor cadherin. Implications for outer segment assembly.
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
Rod disc renewal occurs by evagination of the ciliary plasma membrane that makes cadherin-based contacts with the inner segment.
Cdhr1a and pcdh15b may link photoreceptor outer segments with calyceal processes revealing a potential mechanism for cone-rod dystrophy.