SOX1

Chr 13

SRY-box transcription factor 1

NCBI Gene: 6656 ENSG00000182968 UniProt: O00570 OMIM: 602148

The SOX1 protein is a transcription factor that keeps neural cells undifferentiated during development by suppressing neuronal differentiation and counteracting proneural proteins. Mutations in SOX1 cause microphthalmia with brain and digit anomalies, inherited in an autosomal recessive pattern. This condition affects multiple organ systems including the eyes, brain, and limbs during early development.

OMIM ResearchSummary from RefSeq, UniProt

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]

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)

—

P/LP submissions

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P/LP missense

0.95

LOEUF

LOF

Mechanism· predicted