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Background
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Synonyms: BMKS,DIB 1,DIB1,DIM 1,DIM1,DIM1 protein homolog,HsT161,SNRNP15,Spliceosomal U5 snRNP specific 15 kDa protein,Spliceosomal U5 snRNP-specific 15 kDa protein,Thioredoxin like 4,Thioredoxin like 4A,Thioredoxin like protein 4A,Thioredoxin like U5 snRNP protein U5 15kD,Thioredoxin-like protein 4A,Thioredoxin-like U5 snRNP protein U5-15kD,TXN4A,TXNL 4,TXNL 4A,TXNL4,txnl4a,U5 15kD Background: 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.
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