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 |