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Mouse Anti-DOK7 Recombinant Antibody (3C12) (CBMAB-D1512-YC)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
3C12
Antibody Isotype
IgG2b
Application
FC, WB

Basic Information

Immunogen
Full length human recombinant protein of human DOK7 produced in HEK293T cell.
Host Species
Mouse
Specificity
Human
Antibody Isotype
IgG2b
Clonality
Monoclonal Antibody
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.
ApplicationNote
FC1:100
WB1:2,000

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
BSA & Glycerol & PBS
Preservative
Sodium Azide
Concentration
1 mg/ml
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Docking Protein 7
Introduction
DOK7 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.
Entrez Gene ID
285489
UniProt ID
Q18PE1
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.

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