TXNL4A
Sign in to saveAlso known as DIB1, DIM1, HsT161, SNRNP15, TXNL4, U5-15kD, BMKS, thioredoxin like 4A
Thioredoxin-like protein 4A is a protein that is encoded by the TXNL4A gene in humans.
Gene data
TXNL4A- Name
- thioredoxin like 4A
- Type
- protein-coding
- Aliases
- BMKS, DIB1, DIM1, SNRNP15, TXNL4, U5-15kD
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].
via MyGene.info
Wikidata facts
- Image
- Protein TXNL4A PDB 1pqn.png
Show 5 more facts
- HomoloGene ID
- 7150
- exact match
- identifiers.org/ncbigene/10907
- genomic end
- 77793949
- genomic start
- 79970813
- cytogenetic location
- 18q23
Sources (6)
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Article
3 sectionsContents
- Interactions
- References
- Further reading
Thioredoxin-like protein 4A is a protein that is encoded by the TXNL4A gene in humans.
== Interactions ==