Recombinant Human Chitobiosyldiphosphodolichol beta-mannosyltransferase (ALG1), partial

Code CSB-YP887118HU
MSDS
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Source Yeast
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Code CSB-EP887118HU
MSDS
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Source E.coli
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Code CSB-EP887118HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP887118HU
MSDS
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Source Baculovirus
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Code CSB-MP887118HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
ALG1
Uniprot No.
Alternative Names
4-mannosyltransferase; Alg1; ALG1_HUMAN; asparagine-linked glycosylation 1 homolog (yeast; beta-1,4-mannosyltransferase); asparagine-linked glycosylation 1; beta-1,4-mannosyltransferase homolog (S. cerevisiae); Asparagine-linked glycosylation protein 1 homolog; Beta 1 4 mannosyltransferase; Beta-1; CDG1K; Chitobiosyldiphosphodolichol beta-mannosyltransferase; GDP Man GlcNAc2 PP dolichol mannosyltransferase; GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase; GDP-mannose-dolichol diphosphochitobiose mannosyltransferase; Hmat-1; HMAT1; HMT 1; HMT1; Mannosyltransferase 1; Mannosyltransferase-1; MT 1; MT-1; MT1
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
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 before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
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℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and 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.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER.
Gene References into Functions
  1. evaluated the genetic association of WDR3 and ALG1 in schizophrenia. We examined 21 single nucleotide polymorphisms [SNPs; W1 (rs1812607)-W16 (rs6656360), A1 (rs8053916)-A10 (rs9673733)] from these genes using the Japanese case-control sample (1,808 schizophrenics and 2,170 matched controls). No significant genetic associations of these SNPs were identified. However, we detected a significant association of W4 (rs319471) PMID: 29309433
  2. Study presents molecular, clinical and biochemical findings in the largest collection of ALG1-CDG cases ever reported at a single time with 39 cases, bringing the total number to 57. This ranks it the third most common CDG type behind PMM2-CDG and ALG6-CDG. In addition, highly lethal genotype were identified and confirm the presence of a unique xeno-tetrasaccharide in ALG1-CDG patients. PMID: 26931382
  3. In title. PMID: 25649379
  4. Was detected in the patient's ALG1-coding sequence. PMID: 24157261
  5. Family study defining the phenotype of deficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Four novel ALG1 mutations were identified. PMID: 22966035
  6. DNA sequencing of ALG1 revealed nine different mutations, seven of which have not been previously reported. Clinical presentations of deficiency are severe, with dysmorphias, CNS involvement and ocular disturbances PMID: 20679665

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Involvement in disease
Congenital disorder of glycosylation 1K (CDG1K)
Subcellular Location
Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Protein Families
Glycosyltransferase group 1 family, Glycosyltransferase 33 subfamily
Database Links

HGNC: 18294

OMIM: 605907

KEGG: hsa:56052

STRING: 9606.ENSP00000262374

UniGene: Hs.592086

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