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NGLY1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NGLY1 gene

The NGLY1 gene provides instructions for making an enzyme that removes sugar molecules from misfolded proteins, a process necessary for their degradation.

Normal Function

The NGLY1 gene provides instructions for making an enzyme called N-glycanase 1. This enzyme is involved in a process called deglycosylation, by which chains of sugar molecules (glycans) are removed from proteins. Specifically, N-glycanase 1 removes glycans from misfolded proteins, a step thought to be essential for the breakdown (degradation) of these abnormal proteins.

Health Conditions Related to Genetic Changes

NGLY1-congenital disorder of deglycosylation

At least 13 mutations in the NGLY1 gene have been found to cause NGLY1-congenital disorder of deglycosylation (NGLY1-CDDG). This condition affects many body systems, causing delayed development, movement abnormalities, liver function problems, eye abnormalities, and a reduction or absence of tears (hypolacrima or alacrima).

  • Mechanism: These mutations impair the production of the N-glycanase 1 enzyme, resulting in a severe reduction or absence of function.
  • Cellular Impact: Without the removal of glycans, certain misfolded proteins cannot be broken down. These abnormal proteins accumulate and form clumps (aggregates) in cells, which may damage cells in the brain, liver, and eyes.

Other Names for This Gene

  • CDDG
  • CDGIV
  • FLJ11005
  • hPNGase
  • peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 1
  • peptide:N-glycanase
  • PNG1
  • PNGase

Frequently Asked Questions

Parents often notice delayed motor milestones such as delayed head control or sitting, frequent tremors or abnormal movements, and a lack of tears (hypolacrima). Liver function tests may show elevated transaminases, and eye exams can reveal cataracts or other abnormalities. Early evaluation by a pediatric neurologist or geneticist is recommended if these signs are present.
definitive diagnosis requires sequencing of the NGLY1 gene to identify pathogenic variants. Whole‑exome sequencing or targeted NGLY1 panels are commonly used. Once variants are found, a molecular geneticist will interpret whether they are likely disease‑causing based on allele frequency, predicted impact, and segregation with affected family members.
Regular ophthalmology visits are essential. Treatments may include lubricating eye drops for dry eyes, prescription glasses or contact lenses for refractive errors, and cataract surgery if indicated. Some patients benefit from low‑vision aids and visual‑rehabilitation programs to maximize functional vision. Early intervention can reduce the risk of complications and improve quality of life.
Currently, there is no FDA‑approved therapy specifically for NGLY1‑CDDG. Management is supportive: physical therapy for movement issues, liver monitoring, and ophthalmologic care for eye problems. Several research groups are exploring enzyme replacement or gene‑editing approaches, and patients can inquire about ongoing clinical trials through registries such as the NGLY1 Foundation or the NIH ClinicalTrials.gov database.
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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