Thioredoxin-like protein 4A (TXNL4A)

Thioredoxin-like protein 4A (TXNL4A) is a protein-coding gene located on human chromosome 18, encoding a ubiquitous and essential protein component of the spliceosome, specifically the U5 small nuclear ribonucleoprotein (U5 snRNP) and the U4/U6-U5 tri-snRNP complex[3][5][2][1]. TXNL4A stabilizes the tri-snRNP complex, preventing premature activation of the spliceosome during pre-mRNA splicing, a process critical for normal RNA processing in all nucleated cells[2][1][3]. Pathogenic variants or promoter deletions in TXNL4A reduce functional protein levels, disrupt spliceosome assembly, and cause Burn-McKeown syndrome, a rare autosomal-recessive disorder involving craniofacial anomalies and other features[5][4][2]. TXNL4A’s gene product interacts with other splicing factors such as PQBP1[3][6][7]. There is no evidence to support a direct therapeutic targeting or clinical biomarker use for TXNL4A to date; its principal relevance is in human genetics and basic molecular biology of the spliceosome.

Other names

BMKSDIB1DIM1SNRNP15TXNL4U5-15kDHsT161spliceosomal U5 snRNP-specific 15 kDa proteinthioredoxin-like U5 snRNP protein U5-15kDDIM1 protein homologthioredoxin-like protein 4Athioredoxin-like U5 snRNP proteinthioredoxin-like 4A protein