YRP09018-01 [Polyclonal Antibody]
EFHC1 Rabbit Polyclonal Antibody
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Species:   Rabbit
Applications:   WB IHC IF
Immunogen Range:   KLH conjugated synthetic peptide derived from human EFHC1
Clonality:   Polyclonal Antibody
Isotype:   IgG
GENE ID:   114327
Swiss Prot:  
Synonyms:   EF hand domain C terminal containing 1, EF hand domain containing protein 1, EF-hand domain-containing protein 1, Efhc1, EFHC1_HUMAN, EJA1, EJM1, FLJ10466, FLJ37290, JAE, Myoclonin 1, Myoclonin-1.
Purification:   Purified by Protein A.
Storage:   Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months
Background:   Defects in EFHC1 are the cause of juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]. EJM1 is a subtype of idiopathic generalized epilepsy (IGE). Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.Genetic variations in EFHC1 are the cause of susceptibility to juvenile absence epilepsy type 1 (JAE1) . JAE is a subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.
Caculated MW:   /
Observed MW:   Refer to Figures
Applications:   WB 1:100-1:1000
IHC 1:100-1:500
IF 1:50-1:200
Reacitivity:   Human, Mouse, Rat
For research use only. Not intended for diagnostic or therapeutic use!
Additional information