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UNC80 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

UNC80 gene

The UNC80 gene is essential for the proper function and stability of the NALCN sodium channel complex, which regulates the excitability of nerve cells.

Normal Function

The UNC80 gene provides instructions for making a large protein that is important in the functioning of a sodium channel called NALCN. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals.

The UNC80 protein forms a bridge between NALCN and another protein called UNC79. Together with other molecules, these proteins form a functional NALCN channel complex (channelosome). UNC80 also helps locate and stabilize the NALCN channelosome in the cell membrane of nerve cells (neurons), helping to regulate the activity level (excitability) of these cells.

Health Conditions Related to Genetic Changes

UNC80 deficiency

At least 10 UNC80 gene mutations have been identified in people with UNC80 deficiency, a disorder that causes severe nervous system and developmental problems apparent from birth or early infancy. The mutations result in the absence of the UNC80 protein or the production of an abnormal protein.

Absence of functional UNC80 protein impairs the stability and function of the NALCN channelosome. As a result, neuron excitability is thought to be improperly regulated, though the exact mechanism causing the specific features of UNC80 deficiency remains unclear.

Other Names for This Gene

  • C2orf21
  • FLJ33496
  • KIAA1843
  • protein unc-80 homolog isoform 1
  • protein unc-80 homolog isoform 2
  • UNC-80
  • unc-80 homolog, NALCN activator

Frequently Asked Questions

UNC80 deficiency is autosomal recessive. When both parents carry one pathogenic allele, each pregnancy has a 25 % chance of producing an affected child, a 50 % chance of a carrier child, and a 25 % chance of a child with two normal alleles. Prenatal diagnostic options include chorionic villus sampling or amniocentesis with targeted mutation analysis, and pre‑implantation genetic testing is available for couples using IVF.
Testing is indicated when a newborn or infant presents with unexplained severe hypotonia, global developmental delay, abnormal respiratory patterns, or refractory seizures, especially if there is a family history of similar features. A trio exome sequencing (child and both parents) is the preferred first‑line test because it captures point mutations, small insertions/deletions, and can detect compound heterozygosity.
Seizures in UNC80 deficiency often respond to conventional antiepileptic drugs, but some patients benefit from sodium channel blockers (e.g., carbamazepine, oxcarbazepine) given the channel’s role in neuronal excitability. Close EEG monitoring is advised, and if seizures are refractory, a trial of ketogenic diet or vagus‑nerve stimulation may be considered under specialist guidance.
Infants typically show severe hypotonia, delayed motor milestones (rolling, sitting, walking) and poor head control. Speech and language are often profoundly affected. Early intervention with intensive physical therapy to improve tone and strength, combined with occupational therapy for fine‑motor skills and speech‑language therapy, can maximize functional abilities. Regular reassessment helps tailor the program as the child grows.
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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