SCYL3

Chr 1

SCY1 like pseudokinase 3

Also known as: PACE-1, PACE1

NCBI Gene: 57147 ENSG00000000457 UniProt: Q8IZE3

This gene encodes a protein with a kinase domain and HEAT repeats that regulates cell adhesion and migration by interacting with ezrin. Mutations cause autosomal recessive peripheral neuropathy with early onset in infancy or childhood. The gene shows significant constraint against loss-of-function variants (LOEUF 0.42), indicating intolerance to protein-truncating mutations.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]

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)

—

P/LP submissions

—

P/LP missense

0.42

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429