TXNL4A, Official Symbol TXNL4Aprovided by HGNC Official Full Name thioredoxin like 4Aprovided by HGNC Primary source HGNC:HGNC:30551 See related Ensembl:ENSG00000141759 MIM:611595; AllianceGenome:HGNC:30551 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BMKS; DIB1; DIM1; TXNL4; SNRNP15; U5-15kD Summary 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] Expression Ubiquitous expression in brain (RPKM 13.4), testis (RPKM 11.6) and 25 other tissues See more Orthologs mouse all