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GeneQ18035938· pop 7· linked from 3 articles

Also 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
genomic end
77793949
genomic start
79970813
cytogenetic location
18q23
Sources (6)

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Article

3 sections
Contents
  • Interactions
  • References
  • Further reading

Thioredoxin-like protein 4A is a protein that is encoded by the TXNL4A gene in humans.

== Interactions ==

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