TCEAL1

Chr X

transcription elongation factor A like 1

Also known as: HIJRS, NEDGFAX, SIIR, WEX9, p21, pp21

NCBI Gene: 9338 ENSG00000172465 UniProt: Q15170

TCEAL1 encodes a transcriptional regulator that modulates viral and cellular promoter activity in a context-dependent manner without directly binding DNA. Mutations cause Hijazi-Reis syndrome, an X-linked dominant disorder affecting neurological development. The gene shows moderate constraint against loss-of-function variants.

ResearchSummary from OMIM, UniProt

This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. 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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHijazi-Reis syndrome

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.07

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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