THOC7

Chr 3

THO complex subunit 7

Also known as: NIF3L1BP1, fSAP24, hTREX30

NCBI Gene: 80145 ENSG00000163634 UniProt: Q6I9Y2

The THOC7 protein is a component of the TREX complex that couples mRNA transcription, processing and nuclear export, and is required for efficient export of polyadenylated RNA from the nucleus to the cytoplasm. Mutations cause autosomal recessive intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies. This gene has moderate constraint against loss-of-function variants and is associated with a GeneReviews entry indicating established clinical significance.

GeneReviews ResearchSummary from RefSeq, UniProt

Predicted to enable RNA binding activity. Involved in mRNA export from nucleus. Located in chromosome, telomeric region; cytosol; and nuclear speck. Part of THO complex part of transcription export complex. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.82

LOEUF

Mechanism· predicted

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GeneReview available — THOC7