TCEAL5

Chr X

transcription elongation factor A like 5

Also known as: WEX4

NCBI Gene: 340543 ENSG00000204065 UniProt: Q5H9L2

TCEAL5 encodes a protein containing a BEX domain that may be involved in transcriptional regulation. Mutations cause X-linked intellectual disability with seizures and macrocephaly, following an X-linked inheritance pattern. The gene shows moderate constraint against loss-of-function variants, suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

This gene, which is located on the X chromosome, encodes a protein which contains a BEX (brain expressed X-liked like family) domain. This domain is found in proteins encoded by the TCEAL elongation factor (transcription elongation factor A (SII)-like) gene family also located on the X chromosome. The coding region for this gene is located entirely in the terminal exon. [provided by RefSeq, Sep 2011]

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

—

P/LP missense

0.69

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429