FBXO28 Chromosome 1
F-box protein 28
Upload your DNA to see your personal genotypes for variants in FBXO28.
What This Gene Does
Members of the F-box protein family, such as FBXO28, 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
1q42.11
Ensembl
ENSG00000143756
Associated Conditions (3)
Inborn genetic diseases
See cases
Developmental and epileptic encephalopathy 100
Key Variants
RS1553292987
Likely pathogenic
Inborn genetic diseases, See cases, Developmental and epileptic encephalopathy 100
Health Risk
RS2102638625
Likely pathogenic
Health Risk
RS2102604634
Pathogenic
Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
Health Risk
RS2102638530
Pathogenic
Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
Health Risk
RS2102638590
Pathogenic
Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
Health Risk
RS2102638612
Pathogenic
Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
Health Risk
RS2102638631
Pathogenic
Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
Health Risk
RS2527209619
Pathogenic
Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553292987 | Health Risk | Likely pathogenic | Inborn genetic diseases, See cases, Developmental and epileptic encephalopathy 100 |
| RS2102638625 | Health Risk | Likely pathogenic | — |
| RS2102604634 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100 |
| RS2102638530 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100 |
| RS2102638590 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100 |
| RS2102638612 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100 |
| RS2102638631 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100 |
| RS2527209619 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 100, Developmental and epileptic encephalopathy 100 |