bs-9013R

DATASHEET

Host: Rabbit

Target Protein: EFHC1

Immunogen Range: 301-400/640

Clonality: Polyclonal

Isotype: IgG

Entrez Gene: 114327

Source: KLH conjugated synthetic peptide derived from human EFHC1

Purification: Purified by Protein A.

Storage Buffer: 0.01M TBS(pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Storage: Shipped at 4°C. Store at -20°C for one year. Avoid repeated freeze/thaw cycles.

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.

Size: 100ul

Concentration: 1ug/ul

Applications: WB(1:300-5000)
IHC-P(1:200-400)
IF(IHC-P)(1:50-200)

Cross Reactive Species: Human
Mouse
Rat

For research use only. Not intended for diagnostic or therapeutic use.