| Entrez Gene ID | 84961 |
|---|---|
| Official Gene Symbol | FBXL20 (GeneCards) |
| Full name | F-box and leucine rich repeat protein 20 |
| Location | 17q12 |
| Other ids | Vega : OTTHUMG00000179002 MIM : 609086 HGNC : HGNC:24679 Ensembl : ENSG00000108306 |
| Other names | Fbl2, Fbl20 |
| Summary | Members of the F-box protein family, such as FBXL20, 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 20126 | 84961 | FBXL20 | 17 | 37497667 | 37497667 | Cockayne syndrome | HiSeq X Ten |