TCEAL3

Chr X

transcription elongation factor A like 3

Also known as: WEX8

NCBI Gene: 85012 ENSG00000196507 UniProt: Q969E4 OMIM: 301153

The protein is a nuclear phosphoprotein that modulates transcription in a promoter context-dependent manner and is part of the transcription elongation factor A-like gene family. Mutations cause X-linked intellectual disability, and the gene shows moderate constraint against loss-of-function variants. 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

0.67

LOEUF

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Mechanism