TXNL4A

TXNL4A is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. TXNL4A 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.

Full Name

thioredoxin-like 4A

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).

Biological Process

Biological Process cell cycle Source:UniProtKB-KW
Biological Process cell division Source:UniProtKB-KW
Biological Process mRNA splicing, via spliceosome Source:UniProtKB1 Publication
Biological Process RNA splicing, via transesterification reactions Source:UniProtKB1 Publication
Biological Process spliceosomal complex assembly Source:UniProtKB1 Publication

Cellular Location

Nucleus

Involvement in disease

Burn-McKeown syndrome (BMKS):
A disease characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Intellectual development is normal.

PTM

The disulfide bond seen in structures determined by X-ray crystallography (PubMed:10610776) and NMR (PubMed:12911302) is not essential for protein folding and function (PubMed:12911302 and PubMed:17467737).