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TXNL4A

thioredoxin-like 4A

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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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).