NBEAL2 Antibody, HRP conjugated

Code CSB-PA751159LB01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) NBEAL2 Polyclonal antibody
Uniprot No.
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
HRP
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
Troubleshooting and 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.

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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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