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Rabbit Anti-DOK7 Recombinant Antibody (EG991) (CBMAB-EN1173-LY)

The product is antibody recognizes DOK7. The antibody EG991 immunoassay techniques such as: WB: 1:500~1:1000 IHC: 1:50~1:100 IF: 1:100~1:500 ELISA: 1:1000.
See all DOK7 antibodies

Summary

Host Animal
Rabbit
Specificity
Human, Mouse
Clone
EG991
Antibody Isotype
IgG
Application
WB: 1:500~1:1000 IHC: 1:50~1:100 IF: 1:100~1:500 ELISA: 1:1000

Basic Information

Immunogen
The antibody was produced against synthesized peptide derived from N-terminal of human DOK7.
Specificity
Human, Mouse
Antibody Isotype
IgG
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!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Docking Protein 7
Introduction
The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Entrez Gene ID
Human285489
Mouse231134
UniProt ID
HumanQ18PE1
MouseQ18PE0
Alternative Names
Docking Protein 7; Downstream Of Tyrosine Kinase 7; C4orf25; Chromosome 4 Open Reading Frame 25; Protein Dok-7; CMS1B; CMS10;
Function
Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Biological Process
Neuromuscular junction development Source: GO_Central
Positive regulation of protein tyrosine kinase activity Source: UniProtKB
Cellular Location
Cell membrane; Synapse. Accumulates at neuromuscular junctions.
Involvement in disease
Myasthenic syndrome, congenital, 10 (CMS10):
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS10 is an autosomal recessive, post-synaptic form characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function.
Fetal akinesia deformation sequence 3 (FADS3):
A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS3 inheritance is autosomal recessive.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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