FBXW10

Chr 17

F-box and WD repeat domain containing 10

Also known as: Fbw10, HREP, SM25H2, SM2SH2

NCBI Gene: 10517 ENSG00000171931 UniProt: Q5XX13 OMIM: 611679

FBXW10 encodes a substrate-recognition component of SCF E3 ubiquitin ligase complexes that target specific proteins for degradation through ubiquitination. Mutations cause autosomal recessive intellectual disability with microcephaly, short stature, and facial dysmorphism. The gene shows minimal constraint against loss-of-function variants (pLI near 0), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, UniProt

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 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…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.12

LOEUF

GOF

Mechanism· predicted