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Product Name Gephyrin Chinese Name 桥尾蛋白抗体 Alias Domain E; Domain G; GEPH; GEPH_HUMAN; GPH; GPHN; GPHRYN; Molybdopterin molybdenumtransferase; MPT adenylyltransferase; MPT Mo-transferase. Research Area Neurobiology Signal transduction Cell adhesion molecule Cell Surface Molecule Cytoskeleton Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, (predicted: Human, Rat, Dog, Pig, Cow, Horse, Rabbit, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 83kDa Cellular localization cytoplasmic The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human Gephyrin: 231-330/736 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail The sub-membraneous region at the postsynaptic membrane contains a number of proteins critical for receptor targeting. Gephyrin is a microtubule-associated protein highly expressed in brain and localized to neuronal postsynaptic membranes. Gephyrin is essential for the postsynaptic localization of the inhibitory glycine receptor and is thought to anchor the receptor to subsynaptic microtubules. The protein is expressed in most mammalian tissues with predominant expression in brain. At least five additional splice variants of Gephyrin ranging in molecular weight have been identified in rat and human brain tissue.
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.
Subunit:
Homotrimer. Interacts with GABARAP (By similarity).
Subcellular Location:
Cell junction, synapse (By similarity). Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Cytoplasmic face of glycinergic postsynaptic membranes (By similarity).
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.
Similarity:
In the N-terminal section; belongs to the moaB/mog family.
In the C-terminal section; belongs to the moeA family.
SWISS:
Q9NQX3
Gene ID:
10243
Database links:Entrez Gene: 10243 Human
Entrez Gene: 268566 Mouse
Omim: 603930 Human
SwissProt: Q9NQX3 Human
SwissProt: Q8BUV3 Mouse
Unigene: 208765 Human
Unigene: 341742 Mouse
Unigene: 363753 Mouse
Unigene: 453131 Mouse
Unigene: 11032 Rat
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