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Mouse Anti-POMGNT1 Recombinant Antibody (6C12) (CBMAB-P2390-YC)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
6C12
Antibody Isotype
IgG2a, κ
Application
ELISA, IHC-P, WB

Basic Information

Immunogen
POMGNT1 (NP_060209, 221-319 aa) partial recombinant protein with GST tag.
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Introduction
POMGNT1 is 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.
Entrez Gene ID
55624
UniProt ID
Q8WZA1
Alternative Names
GNTI.2; MGAT1.2; MEB; GnT I.2; LGMD2O; gnT-I.2
Function
Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216, PubMed:28512129).
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 (PubMed:11709191, PubMed:27493216).
Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity.
Biological Process
O-glycan processingManual Assertion Based On ExperimentIDA:UniProtKB
Protein O-linked glycosylationManual Assertion Based On ExperimentIDA:MGI
Cellular Location
Golgi apparatus membrane
Involvement in disease
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3):
An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, intellectual disability, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3 (MDDGB3):
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. Clinical features include intellectual disability, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase.
Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3):
A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan.
Retinitis pigmentosa 76 (RP76):
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP76 inheritance is autosomal recessive.
Topology
Cytoplasmic: 1-37
Helical: 38-58
Lumenal: 59-660
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For research use only. Not intended for any clinical use.

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