Recombinant Human Gephyrin protein (ab153064)
Key features and details
- Expression system: Wheat germ
- Tags: GST tag N-Terminus
- Suitable for: ELISA, WB
Description
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Product name
Recombinant Human Gephyrin protein -
Expression system
Wheat germ -
Protein length
Protein fragment -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
RKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTG NQMSSRLMSMRSANGLLMLPPKTEQYVELHKGEVVDVMVIGRL -
Amino acids
677 to 769 -
Tags
GST tag N-Terminus
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Specifications
Our Abpromise guarantee covers the use of ab153064 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
ELISA
Western blot
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Form
Liquid -
Additional notes
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- Domain E
- Domain G
- GEPH
see all -
Function
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. -
Pathway
Cofactor biosynthesis; molybdopterin biosynthesis. -
Involvement in disease
Defects in GPHN are the cause of molybdenum cofactor deficiency type C (MOCOD type C) [MIM:252150]. MOCOD type C is an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized by severe neurological damage, neonatal seizures and early childhood death.
Defects in GPHN are a cause of startle disease (STHE) [MIM:149400]; also known as hyperekplexia. STHE is a genetically heterogeneous neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. -
Sequence similarities
In the N-terminal section; belongs to the moaB/mog family.
In the C-terminal section; belongs to the moeA family. -
Cellular localization
Cell junction > synapse. Cell junction > synapse > postsynaptic cell membrane. Cytoplasm > cytoskeleton. Cytoplasmic face of glycinergic postsynaptic membranes. - Information by UniProt
Images
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
References (0)
ab153064 has not yet been referenced specifically in any publications.