POMGNT1
POMGNT1 is a Golgi-resident glycosyltransferase that adds N-acetylglucosamine to O-linked mannose on glycoproteins, including alpha-dystroglycan. It is also known as MGAT1.2, MEB, LGMD2O and FLJ20277. Browse Assay Genie's current range of POMGNT1 research reagents below, or read on for the biology behind the target.
POMGNT1 participates in O-mannosyl glycosylation by catalysing the transfer of N-acetylglucosamine to O-linked mannose on glycoproteins. It synthesises the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the basis for the addition of further carbohydrate moieties. The enzyme is specific for alpha-linked terminal mannose and has no MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.
The POMGNT1 gene encodes a type II transmembrane protein that resides in the Golgi apparatus, where it is anchored in the membrane. UniProt places the protein in the glycosyltransferase 13 family, and HGNC classifies it within the O-linked N-acetylglucosaminyltransferases gene group. Alternatively spliced transcript variants encoding different protein isoforms have been described. Orthologs are annotated in mouse and rat (Pomgnt1), which allows the POMGNT1 protein to be studied in common model systems.
The alias list reflects the gene's history in disease genetics. Previous names include muscle-eye-brain disease and protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase, and the symbols MEB and LGMD2O are still used. Mutations in the gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies, which makes POMGNT1 a frequent subject in studies of alpha-dystroglycan glycosylation.
POMGNT1 catalyses an early step in building O-mannose glycans, making it a focal enzyme for studying how these carbohydrate chains are assembled on glycoproteins.
The enzyme synthesises the GlcNAc-mannose moiety on alpha-dystroglycan, providing the basis for further carbohydrate additions to this protein.
Mutations in POMGNT1 may be associated with muscle-eye-brain disease and several congenital muscular dystrophies, linking the gene to neuromuscular research.
As a type II transmembrane protein in the Golgi apparatus, POMGNT1 is a model for substrate specificity among glycosyltransferases.
POMGNT1 catalyses the addition of N-acetylglucosamine to O-linked mannose on glycoproteins. It makes the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, enabling further carbohydrate additions. It acts on alpha-linked terminal mannose.
POMGNT1 is also called MGAT1.2, MEB, LGMD2O and FLJ20277. Earlier names include muscle-eye-brain disease and protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase. Alternatively spliced transcript variants encoding different protein isoforms have been described.
Mutations in the POMGNT1 gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Orthologs exist in mouse and rat (Pomgnt1). Check the datasheet of any product for its validated reactivity.
Other glycosyltransferases and O-mannosylation pathway proteins, including alpha-dystroglycan, with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q8WZA1; product specifications from Assay Genie datasheets.