GPHN Antibody
Product Specifications
CAS Number
9007-83-4
Gene Name
[GPHN]
NCBI Gene ID
10243
Reactivity
Human, Mouse
Storage Conditions
Store at -20 degree C. Stable for 12 months from date of receipt.
Specificity
GPHN antibody detects endogenous levels of total GPHN
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
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