TCEAL8

Chr X

transcription elongation factor A like 8

Also known as: WEX3

NCBI Gene: 90843 ENSG00000180964 UniProt: Q8IYN2 OMIM: 301157

This gene encodes a nuclear phosphoprotein that modulates transcription in a promoter context-dependent manner as part of the transcription elongation factor A (SII)-like gene family. Mutations cause X-linked intellectual disability with seizures and behavioral abnormalities. The gene follows X-linked inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [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)

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P/LP submissions

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P/LP missense

1.21

LOEUF

GOF

Mechanism· predicted