BD-PN0727

GEPH Rabbit Polyclonal Antibody

常规抗体

GPHN GPH KIAA1385

Gephyrin [Includes: Molybdopterin adenylyltransferase (MPT adenylyltransferase) (EC 2.7.7.75) (Domain G); Molybdopterin molybdenumtransferase (MPT Mo-transferase) (EC 2.10.1.1) (Domain E)]

WB

Human,Rat,Mouse

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.

10243

Q9NQX3

https://www.uniprot.org/uniprotkb/Q9NQX3/entry

Q8BUV3

http://www.uniprot.org/uniprot/Q8BUV3

Q03555

http://www.uniprot.org/uniprot/O54941Q03555

Synthesized peptide derived from part region of human protein

GEPH Polyclonal Antibody detects endogenous levels of protein.

WB 1:500-2000 ELISA 1:5000-20000

80kD

-20°C/1 year

Polyclonal, Rabbit,IgG

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008],

Brain,Epithelium,Hippocampus,Kidney,Testis,

Cell junction, synapse, postsynaptic cell membrane ; Lipid-anchor ; Cytoplasmic side . Cell membrane ; Lipid-anchor ; Cytoplasmic side . Cytoplasm, cytosol . Cytoplasm, cytoskeleton . Cell projection, dendrite . Cell junction, synapse, postsynaptic density . Cytoplasmic face of glycinergic postsynaptic membranes (By similarity). Forms clusters at synapses (PubMed:25025157). .

cofactor:Magnesium.,disease: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.,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.,domain:Contains 2 functional domains that are expressed as separate proteins in bacteria. The G-domain adenylates molybdopterin. The E-domain inserts molybdenum into adenylated molybdopterin.,enzyme regulation:Inhibited by copper and tungsten.,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). Involved in molybdenum cofactor biosynthesis. Required for molybdenum transfer to molybdopterin. In a first step, copper-molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.,pathway:Cofactor biosynthesis; molybdopterin biosynthesis.,similarity:In the C-terminal section; belongs to the moeA family.,similarity:In the N-terminal section; belongs to the moaB/mog family.,subcellular location:Cytoplasmic face of glycinergic postsynaptic membranes.,subunit:Homotrimer. Interacts with GABARAP.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.