TXNL4A
Function
Plays a 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).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
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, PubMed:17467737).
Sequence Similarities
Belongs to the DIM1 family.
Cellular localization
- Nucleus
Alternative names
DIM1, TXNL4, TXNL4A, Thioredoxin-like protein 4A, DIM1 protein homolog, Spliceosomal U5 snRNP-specific 15 kDa protein, Thioredoxin-like U5 snRNP protein U5-15kD