EFHC1 Polyclonal Antibody, FITC Conjugated
Product Specifications
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.
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.
Gene ID
114327
Host
Rabbit
Cross Reactivity
Human, Mouse, Rat
Immunogen
301-400/640
Target
EFHC1
Clonality
Polyclonal
Isotype
IgG
Conjugation
FITC
Source
KLH conjugated synthetic peptide derived from human EFHC1
Applications
IF
Purification
Purified by Protein A.
Excitation Emission
494nm/518nm
Concentration
1µg/µl
Dilution
IF (IF=1:50-200)
Buffer
Aqueous buffered solution containing 0.01M TBS (pH 7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
Modification
Unmodified
Storage Conditions
Store at -20°C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.
Gene ID URL
114327
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