FBXW10B

Chr 17

F-box and WD repeat domain containing 10B

Also known as: C170RF1, C17ORF1, C17ORF1A, CDRT1, FBXW10P1, HREP, SM25H2

NCBI Gene: 374286 ENSG00000241322 UniProt: O95170 OMIM: 604596

FBXW10B encodes an F-box protein that functions as part of SCF ubiquitin ligase complexes to target specific proteins for degradation. The gene is not constrained against loss-of-function variants and no definitive disease associations have been established in the provided data. Clinical significance of variants in this gene requires careful evaluation given the lack of established phenotypes.

OMIM ResearchSummary from RefSeq

Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), 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…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.00

LOEUF

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Mechanism