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NBEAL2 Antibody, Biotin conjugated

Datasheet
Code CSB-PA751159LD01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) NBEAL2 Polyclonal antibody
Uniprot No.
Q6ZNJ1
Target Names
NBEAL2
Alternative Names
BDPLT4 antibody; GPS antibody; NBEAL2 antibody; NBEL2_HUMAN antibody; Neurobeachin-like protein 2 antibody; UNQ253/PRO290 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Neurobeachin-like protein 2 protein (1360-1574AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Biotin
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
ELISA Protocol
Troubleshooting and FAQs
Antibody FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Usage
For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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Target Background

Function
Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.
Gene References into Functions
  1. Author observed absence of NBEAL2 in platelets from GPS patients with 3 different genotypes, and reduced/truncated platelet NBEAL2 has been reported for others. PMID: 29869935
  2. NBEAL2 has an essential role in neutrophil and NK cell function and pathogen defense PMID: 28783043
  3. we herein show a long-distance regulatory region with GATA1 binding sites as being a strong enhancer for NBEAL2 expression. PMID: 28082341
  4. NBEAL2 mutation is associated with gray platelet syndrome. PMID: 21765411
  5. Mutations in NBEAL2, encoding a BEACH protein is associated with gray platelet syndrome. PMID: 21765413

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Involvement in disease
Gray platelet syndrome (GPS)
Subcellular Location
Endoplasmic reticulum.
Protein Families
WD repeat neurobeachin family
Tissue Specificity
Expressed in megakaryocytes.
Database Links

HGNC: 31928

OMIM: 139090

KEGG: hsa:23218

STRING: 9606.ENSP00000415034

UniGene: Hs.437043

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