FBXO43 Chromosome 8
F-box protein 43
Upload your DNA to see your personal genotypes for variants in FBXO43.
What This Gene Does
Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
F-boxes other
Locus Type
gene with protein product
Location
8q22.2
Ensembl
ENSG00000156509
Associated Conditions (2)
Oocyte maturation defect 12
Spermatogenic failure 64
Key Variants
RS2132132474
Pathogenic
Oocyte maturation defect 12, Oocyte maturation defect 12
Health Risk
RS2132138452
Pathogenic
Oocyte maturation defect 12, Oocyte maturation defect 12
Health Risk
RS768989830
Pathogenic
Oocyte maturation defect 12, Spermatogenic failure 64, Oocyte maturation defect 12
Health Risk
RS954702094
Pathogenic
Spermatogenic failure 64, Spermatogenic failure 64
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2132132474 | Health Risk | Pathogenic | Oocyte maturation defect 12, Oocyte maturation defect 12 |
| RS2132138452 | Health Risk | Pathogenic | Oocyte maturation defect 12, Oocyte maturation defect 12 |
| RS768989830 | Health Risk | Pathogenic | Oocyte maturation defect 12, Spermatogenic failure 64, Oocyte maturation defect 12 |
| RS954702094 | Health Risk | Pathogenic | Spermatogenic failure 64, Spermatogenic failure 64 |