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EFHC1 Polyclonal Antibody

Applications

  • WB
  • IHC-P
  • IF(IHC-P)

Reactivity

  • Human
  • Mouse
  • Rat
Overview
Catalog # bs-9013R
Product Name EFHC1 Polyclonal Antibody
Applications WB, IHC-P, IF(IHC-P)
Reactivity Human, Mouse, Rat
Specifications
Conjugation Unconjugated
Host Rabbit
Source KLH conjugated synthetic peptide derived from human EFHC1
Immunogen Range 301-400/640
Clonality Polyclonal
Isotype IgG
Concentration 1ug/ul
Purification Purified by Protein A.
Storage Buffer 0.01M TBS(pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
Storage Condition Shipped at 4°C. Store at -20°C for one year. Avoid repeated freeze/thaw cycles.
Target
Gene ID 114327
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.
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.
Application Dilution
WB 1:300-5000
IHC-P 1:200-400
IF(IHC-P) 1:50-200