免疫原
Synthesized peptide derived from part region of human protein
特异性
GEPH Polyclonal Antibody detects endogenous levels of protein.
来源
Polyclonal, Rabbit,IgG
组成(Formulation)
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
稀释比例
WB 1:500-2000 ELISA 1:5000-20000
纯化工艺(Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
背景(Background)
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],
功能
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:I
基因名称(Gene Name)
GPHN GPH KIAA1385
蛋白名称
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)]
Fields
>>Folate biosynthesis;>>Metabolic pathways;>>Biosynthesis of cofactors;>>GABAergic synapse
细胞定位
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). .
组织表达
Brain,Epithelium,Hippocampus,Kidney,Testis,