{"metadata":{"accession":"PF14926","entry_id":null,"type":"family","go_terms":null,"source_database":"pfam","member_databases":null,"integrated":"IPR029416","hierarchy":null,"name":{"name":"Cilia- and flagella-associated protein 300","short":"CFAP300"},"description":[{"text":"<p>CFAP300 is a cilia- and flagella-associated protein that is essential for assembly of dynein arms. Mutations in the CFAP300 gene (C11orf70) cause defective cilia motility and primary ciliary dyskinesia [[cite:PUB00089790],[cite:PUB00089791]].</p>","llm":false,"checked":false,"updated":false}],"wikipedia":null,"literature":{"PUB00089791":{"PMID":29727693,"ISBN":null,"volume":"102","issue":"5","year":2018,"title":"Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.","URL":null,"raw_pages":"973-984","medline_journal":"Am J Hum Genet","ISO_journal":"Am. J. Hum. Genet.","authors":["Hoben IM","Hjeij R","Olbrich H","Dougherty GW","Nothe-Menchen T","Aprea I","Frank D","Pennekamp P","Dworniczak B","Wallmeier J","Raidt J","Nielsen KG","Philipsen MC","Santamaria F","Venditto L","Amirav I","Mussaffi H","Prenzel F","Wu K","Bakey Z","Schmidts M","Loges NT","Omran H."],"DOI_URL":"https://doi.org/10.1016/j.ajhg.2018.03.025"},"PUB00089790":{"PMID":29727692,"ISBN":null,"volume":"102","issue":"5","year":2018,"title":"C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.","URL":null,"raw_pages":"956-972","medline_journal":"Am J Hum Genet","ISO_journal":"Am. J. Hum. Genet.","authors":["Fassad MR","Shoemark A","le Borgne P","Koll F","Patel M","Dixon M","Hayward J","Richardson C","Frost E","Jenkins L","Cullup T","Chung EMK","Lemullois M","Aubusson-Fleury A","Hogg C","Mitchell DR","Tassin AM","Mitchison HM."],"DOI_URL":"https://doi.org/10.1016/j.ajhg.2018.03.024"}},"set_info":null,"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":26,"interactions":0,"matches":1484,"pathways":0,"proteins":1441,"proteomes":1112,"sets":0,"structural_models":{"alphafold":1279},"structures":0,"taxa":3546},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":30,"alignment:full":1225},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}