THOC6

Chr 16AR

THO complex subunit 6

Also known as: MMRFCGU, WDR58, fSAP35

NCBI Gene: 79228 ENSG00000131652 UniProt: Q86W42 OMIM: 615403

The protein is a subunit of the THO complex that coordinates transcription with mRNA processing and export from the nucleus. Mutations cause Beaulieu-Boycott-Innes syndrome, a neurodevelopmental disorder inherited in an autosomal recessive pattern. The pathogenic mechanism involves disruption of the transcription-export machinery critical for proper mRNA metabolism.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Beaulieu-Boycott-Innes syndromeMIM #613680

Clinical highlights

Gene-disease validity (ClinGen)

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.67

LOEUF

LOF

Mechanism· G2P

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GeneReview available — THOC6