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ELP1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ELP1 gene

The ELP1 gene provides instructions for a protein that is part of the elongator complex, which is essential for gene transcription and the development of nerve cells.

Normal Function

The ELP1 gene provides instructions for making a protein called elongator complex protein 1 (ELP1). This protein is part of a six-protein complex called the elongator complex. The elongator complex plays a key role in transcription, the process that transfers information in genes to the cell machinery that makes proteins. Researchers believe the elongator complex is important for the transcription of proteins that affect the cell's structural framework (the cytoskeleton) and cell movement (motility). These processes are essential for the growth and development of nerve cells, particularly the growth of axons and dendrites and the migration of nerve cells to their proper locations in the brain.

Health Conditions Related to Genetic Changes

Familial dysautonomia

Nearly all individuals with familial dysautonomia have two copies of the same mutation in each cell. This mutation disrupts how information in the ELP1 gene is spliced together during transcription, resulting in a reduced amount of ELP1 protein. This mutation behaves inconsistently; some cells produce near-normal amounts of ELP1 protein, while others—particularly brain cells—have very little.

In a small number of cases, researchers have identified other mutations that change one of the protein building blocks (amino acids) in the ELP1 protein, such as Arg696Pro or Pro914Leu. These mutations, often occurring alongside the splicing mutation, further impair the ELP1 protein. Reduced amounts of ELP1 protein may impair the growth and development of nerve cells by disrupting the cytoskeleton and cell motility.

Other Names for This Gene

  • DYS
  • ELP1_HUMAN
  • IKAP
  • IKBKAP
  • IKI3
  • inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • TOT1

Genomic Location

The ELP1 gene is found on chromosome 9.

Frequently Asked Questions

Diagnosis is confirmed by sequencing the ELP1 gene (formerly IKBKAP) to detect the common intronic splice‑site mutation (c.2204+6T>C) and any additional missense changes. Most labs offer a targeted test for this founder mutation, and if negative, full gene sequencing or deletion/duplication analysis is performed.
Infants may have poor feeding, frequent vomiting, low blood pressure, absent or diminished tears, and abnormal heart rate variability. Developmental milestones such as sitting or walking can be delayed, and a lack of response to pain or temperature changes is also common. Prompt referral to a pediatric neurologist and genetic testing is advised if several of these features appear.
Carriers (heterozygous for the splice mutation) are usually asymptomatic because they produce enough normal ELP1 protein. However, carrier testing is recommended for family planning, especially in populations with a higher carrier frequency, to assess the risk of having an affected child.
Current management focuses on symptom control, but research is exploring small‑molecule splicing modulators (e.g., kinetin) that can promote inclusion of the skipped exon and raise ELP1 levels. Clinical trials are limited, so participation should be discussed with a specialist. Supportive therapies—gastrointestinal, respiratory, and autonomic—remain the mainstay of care.
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.

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