SKI

Chr 1AD

SKI proto-oncogene

Also known as: SGS, SKV

NCBI Gene: 6497 ENSG00000157933 UniProt: P12755 OMIM: 164780

The SKI protein functions as a repressor of TGF-beta signaling and plays a role in neural tube development and muscle differentiation. Mutations cause Shprintzen-Goldberg syndrome, a connective tissue disorder with craniosynostosis, arachnodactyly, and intellectual disability. This gene follows autosomal dominant inheritance and is highly constrained against loss-of-function mutations (pLI 0.999).

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Shprintzen-Goldberg syndromeMIM #182212

Clinical highlights

Gene-disease validity (ClinGen)

Shprintzen-Goldberg syndrome · ADDefinitivesufficient evidence for diagnostic panels

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

316

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted

📖