GPHN Blocking Peptide
Product Specifications
Gene Name
[GPHN]
NCBI Gene ID
10243
Storage Conditions
Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.
Other Gene Names
[GPHN; GPHN; GPH; GEPH; HKPX1; GPHRYN; MOCODC; MPT adenylyltransferase; MPT Mo-transferase]
Short Name
[GPHN]
Other Product Names
[gephyrin isoform 2; 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
66932975
NCBI Accession Number
NP_001019389.1
NCBI GB Accession Number
NM_001024218.1
Uniprot Accession Number
Q9NQX3
Available Sizes
Curated Selection
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