Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity.
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt.
Combined Automated Annotation using Multiple IEA Methods.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
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CFAP418 mutations cause cone-rod dystrophy and retinitis pigmentosa.
"RP with early macular involvement"
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Human RPE1 ciliary-base and separate mouse connecting-cilium staining were observed; these do not establish exclusive localization.
"localization at the base of the primary cilium"
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
CFAP418 Bioinformatics Analysis Results
Deep research on CFAP418 function
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
C8ORF37 Is Required for Photoreceptor Outer Segment Disc Morphogenesis by Maintaining Outer Segment Membrane Protein Homeostasis.
Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations.
CFAP418 source and historical-artifact audit