Rabbit anti-Human POMGNT1 Polyclonal Antibody

Uniprot Id

Q8WZA1

Target Species

Human

Target Name

POMGNT1

Target Full Name

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Target Function

Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins. Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.

Target Involvement

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3); Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3); Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3); Retinitis pigmentosa 76 (RP76)

Target Subcellular Location

Golgi apparatus membrane; Single-pass type II membrane protein.

Target Protein Families

Glycosyltransferase 13 family

Target Tissue Specificity

Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.

Target Synonyms

2-N-acetylglucosaminyltransferase 1; 2-N-acetylglucosaminyltransferase I.2; GnT I.2; GnTI.2; MEB; MGAT 1.2; MGAT1.2; O linked mannose beta1 2 N acetylglucosaminyltransferase; PMGT1_HUMAN; POMGNT 1; POMGnT1; Protein O linked mannose beta 1 2 N acetylglucosaminyltransferase 1; Protein O linked mannose beta1 2 N acetylglucosaminyltransferase; Protein O-linked-mannose beta-1; UDP GlcNAc; UDP GlcNAc:alpha D mannoside beta 1 2 N acetylglucosaminyltransferase I.2; UDP-GlcNAc:alpha-D-mannoside beta-1

Target Background

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described.