FBXL6

Chr 8

F-box and leucine rich repeat protein 6

Also known as: FBL6, FBL6A, PP14630

NCBI Gene: 26233 ENSG00000182325 UniProt: Q8N531 OMIM: 609076

The protein serves as a substrate-recognition component of the SCF E3 ubiquitin ligase complex, which targets specific proteins for degradation through the ubiquitin-proteasome pathway. Mutations cause autosomal recessive developmental delay with intellectual disability, seizures, and movement disorders. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to haploinsufficiency.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.10

LOEUF

Mechanism· predicted