CFAP57 Chromosome 1
Cilia and flagella associated protein 57
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What This Gene Does
This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"WD repeat domain containing|Cilia and flagella associated"
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000243710
Associated Conditions (2)
CFAP57-related disorder
Primary ciliary dyskinesia
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS184767321 | Health Risk | Conflicting classifications of pathogenicity | CFAP57-related disorder, CFAP57-related disorder |
| RS200705222 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369556067 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |