NAGPA
Description
The NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase) is a protein-coding gene located on chromosome 16.
The NAGPA gene encodes the enzyme N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase, which is crucial for the proper targeting of lysosomal enzymes. This enzyme, also known as 'uncovering enzyme' or UCE, removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties, producing the mannose 6-phosphate recognition marker that directs lysosomal hydrolases to their destination. This reaction likely occurs in the trans-Golgi network. The protein functions as a homotetramer of two disulfide-linked homodimers and contains signals for trafficking between lysosomes, the plasma membrane, and the trans-Golgi network. The only known human disorder associated with NAGPA is Persistent Neurodevelopmental Stuttering (PNdS).
NAGPA is also known as APAA, UCE.
Associated Diseases
- Alzheimer disease
- lysosomal storage disease
- Parkinson disease
- multiple sclerosis
- stuttering, familial persistent, 2
- FRAXF syndrome
- Miyoshi myopathy
- Wilson disease
- mucolipidosis
- mucolipidosis type II
