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Target intelligence / Profile preview
Cilia- and flagella-associated protein 119 (CFAP119)
- Target
- CFAP119
- Molecular classification
- Coiled-coil domain-containing protein, Other (does not fit conventional classes like receptor, enzyme, ion channel, etc.)
01
Overview
CFAP119 (Cilia- and flagella-associated protein 119) is a protein coded by the CFAP119 gene, initially designated C16orf93 or CCDC189. It is enriched in the principal piece of sperm flagella and is involved in flagella assembly and spermatogenesis, specifically located peri-axonemally; the protein disappears from sperm heads after the acrosome reaction. Functional studies and orthologue descriptions across species (human, mouse, rat, zebrafish) consistently categorize CFAP119 as playing a role in sperm development and motility, likely as a structural or scaffolding protein rather than a receptor or enzyme. There are associations between CFAP119 variants and certain syndromic diseases, but there is no evidence for its involvement as a direct drug target, biomarker, or participant in canonical signaling pathways.
- Other names
- CFAP119C16orf93CCDC189MGC104706Coiled-coil domain-containing protein 189Spergen-4Cilia and flagella-associated protein 119
02
Mechanism of action
None reported; no drugs known to act directly on this protein
03
Biological functions
Sperm flagellum assemblyGene expression regulation (predicted)Single fertilizationAxoneme and peri-axonemal localization in sperm
04
Disease associations
Syndromic associations: Cleft palate, cardiac defects, genital anomalies, ectrodactyly, Noonan syndrome 13Other (no strong evidence that CFAP119 is a direct causative disease gene or classic drug target)
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