SCRT1

Chr 8

scratch family transcriptional repressor 1

Also known as: SCRT, ZNF898

NCBI Gene: 83482 ENSG00000261678 UniProt: Q9BWW7 OMIM: 605858

This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs and modulates basic helix-loop-helix transcription factors critical for neuronal differentiation. Mutations cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, which follows an autosomal dominant inheritance pattern. The gene shows tolerance to loss-of-function variants, suggesting the disorder may involve complex mutational mechanisms.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs. The encoded protein may promote neural differention and may be involved in cancers with neuroendocrine features. [provided by RefSeq, Jul 2013]

OMIM 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

0.88

LOEUF

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Mechanism