GPHN (Center) Rabbit pAb
Product Specifications
Gene Name
[GPHN]
NCBI Gene ID
10243
Reactivity
Human, Mouse
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
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