SIGN IN YOUR ACCOUNT TO HAVE ACCESS TO DIFFERENT FEATURES

FORGOT YOUR PASSWORD?

FORGOT YOUR DETAILS?

AAH, WAIT, I REMEMBER NOW!
24/7 HELPLINE (903) 212-7500
  • PATIENT PORTAL LOGIN

PhyNet Health PhyNet Health

  • Home
  • Find a Clinic
    • Hughes Springs, TX
    • Longview, TX
    • Jefferson, TX
    • Kilgore, TX
    • Lindale, TX
    • Linden, TX
    • Gladewater, TX
    • Lone Star, TX
    • Tatum, TX
    • Marshall, TX
  • Health Services
    • Primary Care Services
    • Physical Therapy / Rehab
    • Allergy Testing & Treatment
    • Chronic Care Management
    • Remote Monitoring Program
    • Virtual Visit
  • Resources
    • MedlinePlus Wiki
      • Health Topics
    • Home Health Coordination
    • Transitions of Care
    • Insurance Help
  • About Phynet
    • About Phynet
    • PhyNet News
    • Better Together Stories
    • Careers
  • Billing

Health Topics

Skip navigation

An official website of the United States government

Here’s how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( Lock Locked padlock icon ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

National Institutes of Health National Library of Medicine
MedlinePlus Trusted Health Information for You
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
  • About MedlinePlus
  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
You Are Here:
Home →
Genetics →
Genes →
TXNL4A gene
URL of this page: https://medlineplus.gov/genetics/gene/txnl4a/

TXNL4A gene

thioredoxin like 4A

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.

More About This Health Condition

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 From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • THIOREDOXIN-LIKE 4A; TXNL4A

Gene and Variant Databases

  • NCBI Gene From the National Institutes of Health
  • ClinVar From the National Institutes of Health

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
DNA helix

Genomic Location

The TXNL4A gene is found on chromosome 18.

Related Health Topics

  • Genes and Gene Therapy
  • Genetic Disorders

MEDICAL ENCYCLOPEDIA

  • Genes
  • Genetics

Understanding Genetics

  • What is DNA?
  • What is a gene?
  • What is a gene variant and how do variants occur?

Disclaimers

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Subscribe to RSSRSS
  • Connect with NLM
  • NLM Web Policies
  • Copyright
  • Accessibility
  • Guidelines for Links
  • Viewers & Players
  • HHS Vulnerability Disclosure
  • MedlinePlus Connect for EHRs
  • For Developers
National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health
Last updated August 1, 2016
Return to top

Patients

  • Find a Clinic
  • Health Services
  • Complex Case Management
  • MA / Medicare Assistance

Quick Links

  • Billing Information
  • Careers
  • About Phynet
  • PhyNet News

Network Links

  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com

Home Office

4002 Technology Center Longview TX 75605
Phone: (903) 247-0484
Fax: (903) 247-0485
[email protected]
  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com
  • GET SOCIAL

© 2021 PhyNet Health • All rights reserved
YOUR LIFE. YOUR CHOICE.

TOP