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| Cat.No | ACP12691 | Target Name | POMGNT1 |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Protein Length | Partial | Purity | >85% (SDS-PAGE) |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q8WZA1 |
|---|
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.
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