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DEE100

Chr 1AD

F-box protein 28

Also known as: CENP-30, DEE100, Fbx28

NCBI Gene: 23219 OMIM: 619777

FBXO28 encodes an F-box protein that functions as part of SCF ubiquitin ligase complexes to target specific proteins for degradation. Mutations cause developmental and epileptic encephalopathy 100, an autosomal dominant disorder characterized by early-onset seizures and developmental impairment. This condition affects both neurological development and seizure control in affected children.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…