Entity Details

Primary name CFAP300
Entity type gene
Source Source Link

Details

PrimaryID85016
RefseqGene
SymbolCFAP300
Namecilia and flagella associated protein 300
Chromosome11
Location11q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCF300_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0031514 motile cilium

Diseases

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Disease IDSourceNameDescription
618063 OMIMCiliary dyskinesia, primary, 38 (CILD38)A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD38 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.