FBXL19

Chr 16

F-box and leucine rich repeat protein 19

Also known as: CXXC11, Fbl19, JHDM1C

NCBI Gene: 54620 ENSG00000099364 UniProt: Q6PCT2

The protein functions as a substrate-recognition component of SCF-type E3 ubiquitin ligase complexes, mediating ubiquitination and degradation of multiple targets including RHOA, RAC1, RAC3, and IL1RL1, while also recruiting factors for chromatin regulation and gene expression during cell differentiation. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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