Target intelligence / Profile preview

Cilia and flagella associated protein 221 (CFAP221)

Target
CFAP221
Molecular classification
Other (Cilia and flagella-associated structural protein; not an enzyme, receptor, transporter, ion channel, or transcription factor)
01

Overview

Cilia and flagella associated protein 221 (CFAP221) is a structural, non-enzymatic protein important for the assembly and proper function of motile cilia and flagella. It plays a key role as part of the central pair apparatus (CPA) within the axoneme, helping regulate ciliary beat frequency and motility. Variants in the CFAP221 gene can cause primary ciliary dyskinesia (PCD), a rare, inherited disorder characterized by chronic respiratory tract infections due to impaired mucociliary clearance, and can contribute to male infertility (in model organisms) by disrupting sperm flagellum assembly. The protein is involved in calmodulin binding and cilium morphogenesis but does not have any well-established role as a receptor, enzyme, or direct drug target. Its function is conserved in various species, indicating an essential role in motile ciliopathies and related disorders[1][2][3][4][5].

Other names
Primary ciliary dyskinesia protein 1PCDP1FAP221CILD55Flagellar associated protein 221 homologPrimary ciliary dyskinesia 1 homolog (mouse)Flagellar associated protein 221 homolog (Chlamydomonas)
02

Biological functions

Motile cilium assemblyCilium morphogenesisCalmodulin bindingEpithelial cilium movement involved in extracellular fluid movementSperm flagellum assembly
03

Disease associations

Primary ciliary dyskinesiaMale infertility (mouse models)
04

Biomarkers

Genetic variants in CFAP221 may serve as genetic biomarkers for primary ciliary dyskinesia diagnosis

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