SKIDA1

Chr 10

SKI/DACH domain containing 1

Also known as: C10orf140, DLN-1

NCBI Gene: 387640 ENSG00000180592 UniProt: Q1XH10

The protein functions as a DNA-binding transcription factor that regulates gene expression through RNA polymerase II. Mutations cause autosomal recessive intellectual disability with variable additional features including seizures and developmental delays. This gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.25), indicating that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq

Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Jul 2025]

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

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted