NGLY1

NGLY1 is a gene that provides instructions for making an enzyme called N-glycanase 1. This enzyme is found in the cells throughout the body and plays a crucial role in a process called protein degradation, which is the breakdown and recycling of unneeded or abnormal proteins.

Function

The NGLY1 gene encodes the enzyme N-glycanase 1. This enzyme is involved in the process of glycoprotein degradation. Glycoproteins are proteins that have sugar molecules attached to them. The N-glycanase 1 enzyme removes these sugar molecules from the glycoproteins, which is a necessary step in their degradation.

Clinical significance

Mutations in the NGLY1 gene cause a condition known as NGLY1 deficiency. This is a rare genetic disorder characterized by a variety of symptoms including developmental delay, movement disorder, and liver disease. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Research

Research into the NGLY1 gene and its associated enzyme is ongoing. Scientists are particularly interested in understanding the exact mechanisms by which NGLY1 deficiency causes the symptoms seen in affected individuals. This research could potentially lead to new treatments for this condition.

See also

• Protein degradation
• Glycoprotein
• NGLY1 deficiency
• Autosomal recessive