Human GPHN Protein Lysate
Product Specifications
Gene Name
[GPHN]
NCBI Gene ID
10243
Storage Conditions
Store at -20 degree C<br>Once reconsituted, aliquot and store any remaining material at-20 degree C to avoid repeated 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 isoform 1; 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
10880983
NCBI Accession Number
NP_065857
NCBI GB Accession Number
NM_020806
Uniprot Accession Number
Q9NQX3
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