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Bestrophin is a plasma membrane protein, localised to the basolateral surface of RPE cells consistent with a role for bestrophin in the generation or regulation of the EOG light peak. Bestrophin and other RFP family members represent a new class of chloride channels, indicating a direct role for bestrophin in generating the light peak [[cite:PUB00011865]]. The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family. More than 97% of the disease-causing mutations are located in the N-terminal RFP-TM domain implying important functional properties [[cite:PUB00011864]]. The bestrophins are four-pass transmembrane chloride-channel proteins [[cite:PUB00096747]], and the RFP-TM or bestrophin domain extends from the N-terminus through approximately 350 amino acids and contains all of the TM domains as well as nearly all reported disease causing mutations [[cite:PUB00109156]]. Interestingly, the RFP motif is not conserved evolutionarily back beyond Metazoa, neither is it in plant members.","domain_architectures":106,"interpro_id":"IPR021134","known_evidence_count":null,"matches":8846,"name":"Bestrophin, RFP-TM, chloride channel","partial_evidence_count":null,"pfam_id":"PF01062","proteins":8246,"proteomes":1318,"short_name":"Bestrophin","source_url":"https://www.ebi.ac.uk/interpro/api/entry/pfam/PF01062","structures":45,"taxa":4218,"unknown_status":"EX_DUF"},"inputs":{"cross_mech":"cross-mech-duf-examples-2026-10-10","members":"pfam-uniprot-uniref90-2026-10-07","protein_examples":"duf-protein-examples-2026-10-13","worklist":"interpro-pfam-duf-2026-10-10"},"members":[],"metadata":{"curation_status":"SEEDED","local_source":"source/data/families/PF01062.yaml","record":{"characterization_status":"UNSCORED","counters":{"alphafold_models":7437,"domain_architectures":106,"matches":8846,"proteins":8246,"proteomes":1318,"structures":45,"taxa":4218},"curation_status":"SEEDED","description":"This entry represents animal bestrophin homologues. Bestrophin is a 68-kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE). It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterised by a depressed light peak in the electrooculogram [[cite:PUB00011865]]. VMD2 encodes a 585-amino acid protein with an approximate mass of 68 kDa which has been designated bestrophin. Bestrophin shares homology with the Caenorhabditis elegans RFP gene family, named for the presence of a conserved arginine (R), phenylalanine (F), proline (P), amino acid sequence motif. Bestrophin is a plasma membrane protein, localised to the basolateral surface of RPE cells consistent with a role for bestrophin in the generation or regulation of the EOG light peak. Bestrophin and other RFP family members represent a new class of chloride channels, indicating a direct role for bestrophin in generating the light peak [[cite:PUB00011865]]. The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family. More than 97% of the disease-causing mutations are located in the N-terminal RFP-TM domain implying important functional properties [[cite:PUB00011864]]. The bestrophins are four-pass transmembrane chloride-channel proteins [[cite:PUB00096747]], and the RFP-TM or bestrophin domain extends from the N-terminus through approximately 350 amino acids and contains all of the TM domains as well as nearly all reported disease causing mutations [[cite:PUB00109156]]. Interestingly, the RFP motif is not conserved evolutionarily back beyond Metazoa, neither is it in plant members.","id":"Pfam:PF01062","interpro_id":"InterPro:IPR021134","name":"Bestrophin, RFP-TM, chloride 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