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TXNL4A 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.
Gene Name: | thioredoxin-like 4A |
Synonyms: | TXNL4A, DIM1 protein homolog, HsT161, Thioredoxin-like 4, U5-15kD, Thioredoxin-like 4A, DIB1, DIM1, Thioredoxin-like protein 4A, TXNL4 |
Target Sequences: | AX067981 IPI00024194.1 P83876 |
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