CFAP251 Chromosome 12
Cilia and flagella associated protein 251
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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 appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000158023
Associated Conditions (7)
Spermatogenic failure 33
Non-syndromic male infertility due to sperm motility disorder
Male infertility with teratozoospermia due to single gene mutation
Reduced sperm motility
multiple morphologic abnormalities of the sperm flagellum
dysplasia of the mitochondrial sheath
CFAP251-related disorder
Key Variants
RS199850417
Conflicting classifications of pathogenicity
Health Risk
RS199671406
Likely pathogenic
Spermatogenic failure 33, Non-syndromic male infertility due to sperm motility disorder, Male infertility with teratozoospermia due to single gene mutation
Health Risk
RS1565912409
Pathogenic
Spermatogenic failure 33, Reduced sperm motility, multiple morphologic abnormalities of the sperm flagellum
Health Risk
RS745817765
Pathogenic
CFAP251-related disorder, Spermatogenic failure 33, CFAP251-related disorder
Health Risk
RS749163856
Pathogenic
Non-syndromic male infertility due to sperm motility disorder, Male infertility with teratozoospermia due to single gene mutation, Spermatogenic failure 33
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199850417 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199671406 | Health Risk | Likely pathogenic | Spermatogenic failure 33, Non-syndromic male infertility due to sperm motility disorder, Male infertility with teratozoospermia due to single gene mutation |
| RS1565912409 | Health Risk | Pathogenic | Spermatogenic failure 33, Reduced sperm motility, multiple morphologic abnormalities of the sperm flagellum |
| RS745817765 | Health Risk | Pathogenic | CFAP251-related disorder, Spermatogenic failure 33, CFAP251-related disorder |
| RS749163856 | Health Risk | Pathogenic | Non-syndromic male infertility due to sperm motility disorder, Male infertility with teratozoospermia due to single gene mutation, Spermatogenic failure 33 |