Product Details

Purity

Greater than 90% as determined by SDS-PAGE.

Target Names

PGM3

Uniprot No.

O95394

Research Area

Metabolism

Alternative Names

2810473H05Rik; Acetylglucosamine phosphomutase; Agm1; AGM1_HUMAN; BB187688; C77933; DKFZp434B187; EC 5.4.2.3; FLJ11614; FLJ13623; IMD23; N acetylglucosamine phosphate mutase 1; N acetylglucosamine phosphate mutase; N-acetylglucosamine-phosphate mutase; PAGM; PGM 3; PGM3; Phosphoacetylglucosamine mutase; Phosphoglucomutase 3; Phosphoglucomutase-3

Species

Homo sapiens (Human)

Source

E.coli

Expression Region

1-542aa

Target Protein Sequence

MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.

Mol. Weight

75.9kDa

Protein Length

Full Length

Tag Info

N-terminal 6xHis-SUMO-tagged

Form

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet & COA

Please contact us to get it.

Description

This Human PGM3 recombinant protein was produced in E.coli, where the gene sequence encoding Human PGM3 (1-542aa) was expressed with the N-terminal 6xHis-SUMO tag. The purity of this PGM3 protein was greater than 90% by SDS-PAGE.
The main function of PGM3 is to catalyze the isomerization reaction of N-acetylglucosamine-6-phosphate (GlcNAc-6-P) to N-acetylglucosamine-1-phosphate (GlcNAc-1-P). This is a chemical transformation of a substrate that is crucial for various biosynthetic and metabolic pathways. PGM3 plays a critical role in the biosynthesis of glycoproteins. Glycoproteins are a class of proteins that have specific sugar molecules attached to them, and these sugar molecules are essential for the stability and function of the proteins. The activity of PGM3 ensures the proper biosynthesis of glycoproteins.
PGM3 is also associated with the function of the immune system. Certain mutations or defects may result in impaired PGM3 function, affecting the normal functioning of immune cells. This could lead to immunodeficiency, making individuals more susceptible to infections. PGM3 deficiency or mutations may be associated with a rare genetic disorder known as PGM3 deficiency disease (PGM3-CDG). This disease can lead to various symptoms, including immune system issues, neurological problems, and growth retardation.

Target Background

Function

Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.

Gene References into Functions

Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. PMID: 28543917
study reports the first founder mutation in PGM3 gene (p.Glu340del) in twelve Tunisian PGM3 deficient patients belonging to three consanguineous families originating from a rural district in west central Tunisia PMID: 28704707
PGM3 mutation identified in a patient with hyper IgE syndrome results in lack of glycosylation at Asn264 and altered glycosylation profile. PMID: 26687240
Data indicate the effect of the phosphoglucomutase 3 (PGM3) mutation for four immunodeficient siblings in a Swedish family. PMID: 26482871
define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes PMID: 24931394
Impairment of PGM3 function leads to a novel primary (inborn) error of development and immunity because biallelic hypomorphic mutations are associated with impaired glycosylation and a hyper-IgE-like phenotype. PMID: 24698316
Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination. PMID: 24589341
Polymorphic analysis of the human phosphoglucomutase-3 gene. PMID: 20221814
PGM(3) is identical to AGM(1). PMID: 12174217

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Involvement in disease

Immunodeficiency 23 (IMD23)

Protein Families

Phosphohexose mutase family

Tissue Specificity

Found in many tissues except lung. Relatively high expression in pancreas, heart, liver, and placenta, and relatively low expression in brain, skeletal muscle and kidney.

Database Links

HGNC: 8907

OMIM: 172100

KEGG: hsa:5238

STRING: 9606.ENSP00000425809

UniGene: Hs.661665

Code	CSB-EP017869HU
Abbreviation	Recombinant Human PGM3 protein
MSDS	MSDS Datasheet
Size	$224
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Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Recombinant Human Phosphoacetylglucosamine mutase (PGM3)

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