GTSE1

Chr 22

G2 and S-phase expressed 1

Also known as: B99

NCBI Gene: 51512 ENSG00000075218 UniProt: Q9NYZ3

The encoded protein regulates cell cycle progression through G2/M phase by interfering with microtubule rearrangements required for mitosis and by binding p53 to shuttle it out of the nucleus and repress apoptosis. Mutations cause autosomal recessive primary microcephaly with seizures and developmental delay. This gene shows low constraint against loss-of-function variants, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.74

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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