THOC6 THO complex subunit 6

Gene ID: 79228, updated on 7-Apr-2024
Gene type: protein coding
Also known as: WDR58; fSAP35; MMRFCGU

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MedGen: C3150939OMIM: 613680GeneReviews: THOC6 Intellectual Disability Syndrome	See labs

Genomic context

Location:: 16p13.3

Sequence:: Chromosome: 16; NC_000016.10 (3024035..3027750)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for THOC6 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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