DISEASES

Disease-gene associations mined from literature

Literature associating THOC7 and syndromic microphthalmia 1

THOC7 [ENSP00000295899]

THO complex subunit 7 homolog; Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre- mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. ECO:0000269|PubMed:15998806, ECO:0000269|PubMed:17190602,

Synonyms:  THOC7,  THOC7p,  hTHOC7,  A0A024R332,  A0A024R341 ...

Linkouts:  STRING  Pharos  UniProt  OMIM