Recombinant Human Thioredoxin-like protein 4A (TXNL4A)

Uniprot Id

P83876

Target Species

Human

Target Name

TXNL4A

Target Full Name

Thioredoxin-like protein 4A

Target Function

Plays role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).

Target Involvement

Burn-McKeown syndrome (BMKS)

Target Subcellular Location

Nucleus.

Target Protein Families

DIM1 family

Target Synonyms

TXNL4A; DIM1; TXNL4Thioredoxin-like protein 4A; DIM1 protein homolog; Spliceosomal U5 snRNP-specific 15 kDa protein; Thioredoxin-like U5 snRNP protein U5-15kD

Target Background

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.