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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| TXNL4A-20-RE | 20 (40 μL) | 200 μL |  |
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| TXNL4A-20-OR | 20 (40 μL) | 200 μL |  |
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| TXNL4A-20-GO | 20 (40 μL) | 200 μL |  |
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| TXNL4A-20-GR | 20 (40 μL) | 200 μL |  |
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| TXNL4A-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : TXNL4A
Gene Name : Thioredoxin like 4A
Chromosome : CHR 18: 800,339,34-799,728,66
Locus : 18q23
Alt. Genes : HIPK3
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