Aliases for TXNL4A Gene
External Ids for TXNL4A Gene
Previous HGNC Symbols for TXNL4A Gene
Previous GeneCards Identifiers for TXNL4A Gene
The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
GeneCards Summary for TXNL4A Gene
TXNL4A (Thioredoxin Like 4A) is a Protein Coding gene. Diseases associated with TXNL4A include Burn-Mckeown Syndrome and Acrofacial Dysostosis 1, Nager Type. Among its related pathways are mRNA Splicing - Major Pathway and mRNA Splicing - Minor Pathway. An important paralog of this gene is TXNL4B.
UniProtKB/Swiss-Prot for TXNL4A Gene
Essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly.