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TXNL4A gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TXNL4A Gene

The TXNL4A gene encodes a subunit of the major spliceosome, and mutations in this gene are associated with Burn‑McKeown syndrome, a congenital disorder affecting facial features, hearing, heart, and growth.

Normal Function

The TXNL4A gene provides instructions for making one part (subunit) of a protein complex called the major spliceosome, which is the larger of two types of spliceosomes found in human cells. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosomes recognize and then remove regions called introns to help produce mature mRNA molecules from immature mRNA molecules.

Health Conditions Related to Genetic Changes

Burn‑McKeown Syndrome

At least 10 TXNL4A gene mutations have been identified in people with Burn‑McKeown syndrome, a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature. Most people with Burn‑McKeown syndrome have a different genetic change in each of the two copies of the TXNL4A gene in each cell; this situation is called compound heterozygosity. In one copy of the gene, a TXNL4A gene mutation results in a protein with impaired function, or no protein at all is produced. The other copy of the TXNL4A gene has a deletion of a small amount of genetic material in an area near the TXNL4A gene called the promoter region, which controls the production of protein from that gene. This genetic change reduces protein production.

Research suggests that reduced quantities of the protein produced from the TXNL4A gene affect the assembly of the major spliceosome and change the production of a particular group of mRNA molecules. The details of these changes and their relationship to the specific signs and symptoms of Burn‑McKeown syndrome are unknown. However, mutations in several genes involved in the spliceosome have been shown to cause other conditions with abnormalities affecting the head and face (craniofacial malformations), so craniofacial development is thought to be particularly sensitive to spliceosome problems.

Other Names for This Gene

  • BMKS
  • DIB1
  • DIM1
  • DIM1 protein homolog
  • HsT161
  • SNRNP15
  • spliceosomal U5 snRNP-specific 15 kDa protein
  • thioredoxin-like 4A
  • thioredoxin-like U5 snRNP protein U5-15kD
  • U5-15kD

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of TXNL4A

Scientific Articles on PubMed

  • PubMed

Catalog of Genes and Diseases from OMIM

  • THIOREDOXIN-LIKE 4A; TXNL4A

Gene and Variant Databases

  • NCBI Gene
  • ClinVar

References

  • Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos‑Bueno MR, Lyonnet S, Amiel J, Gordon CT. A review of craniofacial disorders caused by spliceosomal defects. Clin Genet. 2015 Nov;88(5):405‑15. doi: 10.1111/cge.12596. Epub 2015 May 1. Citation on PubMed
  • Simeoni F, Divita G. The Dim protein family: from structure to splicing. Cell Mol Life Sci. 2007 Aug;64(16):2079‑89. doi: 10.1007/s00018-007-7043-9. Citation on PubMed
  • Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton‑Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpass L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Bohmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Ludecke HJ, Strom TM. Compound heterozygosity of low‑frequency promoter deletions and rare loss‑of‑function mutations in TXNL4A causes Burn‑McKeown syndrome. Am J Hum Genet. 2014 Dec 4;95(6):698‑707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26. Citation on PubMed or Free article on PubMed Central

Genomic Location

The TXNL4A gene is found on chromosome 18.

Frequently Asked Questions

Burn‑McKeown syndrome is caused by compound heterozygous mutations in TXNL4A—one allele typically has a loss‑of‑function variant and the other carries a promoter‑region deletion that lowers gene expression. Since both parents are carriers, each future pregnancy carries a 25 % risk of another affected child, a 50 % chance of a carrier, and a 25 % chance of a child without the mutations.
multidisciplinary team is recommended: a clinical geneticist for ongoing counseling, a pediatric otolaryngologist for airway and nasal passage issues, an audiologist for hearing loss, a cardiologist for congenital heart defects, an endocrinologist for growth monitoring, and a developmental therapist for speech and motor support.
Currently, there are no therapies that directly correct the spliceosome defect. Management focuses on treating individual organ manifestations (e.g., surgical correction of airway anomalies, hearing aids or cochlear implants, cardiac surgery if needed). Research into splice‑modulating drugs is ongoing, but they are not yet clinically available.
Children often experience delays in speech, hearing‑related language acquisition, and growth. Early intervention with speech‑language therapy, regular audiologic assessments, and growth hormone evaluation (if indicated) can help. Consistent monitoring of developmental milestones and individualized education plans are essential for optimal outcomes.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.