GPHN Rabbit pAb

GPHN Rabbit pAb

• Gene Name: [GPHN]
• NCBI Gene ID: 10243
• Reactivity: Human, Mouse, Rat
• Storage Conditions: Store at -20 degree C. Avoid freeze/thaw cycles.
• Other Gene Names: [GPHN; GPHN; GPH; GEPH; HKPX1; GPHRYN; MOCODC; MPT adenylyltransferase; MPT Mo-transferase]
• Short Name: [GPHN]
• Other Product Names: [gephyrin; Gephyrin; gephyrin; gephyrin; Molybdopterin adenylyltransferase (EC:2.7.7.751 PublicationManual assertion inferred by curator fromiRef.17"Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy."EuroEPINOMICS Dravet working groupDejanovic B., Djemie T., Gruenewald N., Suls A., Kress V., Hetsch F., Craiu D., Zemel M., Gormley P., Lal D., Myers C.T., Mefford H.C., Palotie A., Helbig I., Meier J.C., De Jonghe P., Weckhuysen S., Schwarz G.EMBO Mol. Med. 7:1580-1594(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MOCODC ASP-375, CHARACTERIZATION OF MOCODC VARIANTS ASP-375 AND ALA-580, INTERACTION WITH GABRA3 AND GLRB, SUBCELLULAR LOCATION, SUBUNIT, FUNCTION, CATALYTIC ACTIVITY, PATHWAY.]
• NCBI GI Number: 8926308
• NCBI Accession Number: AAF81785.1
• Uniprot Accession Number: Q9NQX3