BCLAF3

Chr X

BCLAF1 and THRAP3 family member 3

Also known as: CXorf23, TOBF1

NCBI Gene: 256643 ENSG00000173681 UniProt: A2AJT9

BCLAF3 encodes a component of the spliceosome complex that is important for maintaining embryonic stem cell fate and may regulate Wnt-driven epithelial renewal in gastric mucosa. The gene is highly constrained against loss-of-function variants (LOEUF 0.421), suggesting mutations would likely cause severe developmental phenotypes. No specific disease associations have been established for this gene based on the provided information.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA binding activity and transcription coregulator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrion. Predicted to be part of mediator complex. [provided by Alliance of Genome Resources, Jul 2025]

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

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P/LP missense

0.42

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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