基因名：
POMGNT1
产品别名：
GNTI.2； GnT I.2； LGMD2O； LGMDR15； MEB； MGAT1.2； RP76； gnT-I.2； POMGNT1； protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)； protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)； protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1； UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2；
背景信息：
Protein O-Linked-Mannose β-1 2-N-Acetylglucosaminyltransferase 1 (POMGNT1) belongs to the Glycosyltransferase 13 family. Amino acid residues between 299-311 are important for both protein expression and enzymatic activity. The minimal catalytic domain is located between positions 299-651. It is suggested that the stem domain of the soluble form is unnecessary for activity, but that some amino acids play a crucial role in the membrane-bound form. Defects in POMGNT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3).
