Gene: CFAP300

Alternate names for this Gene: C11orf70|CILD38|FBB5

Gene Summary:

Gene is located in Chromosome: 11

Location in Chromosome : 11q22.1

Description of this Gene: cilia and flagella associated protein 300

Type of Gene: protein-coding

rs1555071691 in CFAP300 gene and CILIARY DYSKINESIA, PRIMARY, 38 PMID 29727693 2018 Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

PMID 29727692 2018 C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.

rs188240612 in CFAP300 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.