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EFHC1 Polyclonal Antibody

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

Unconjugated

Source

KLH conjugated synthetic peptide derived from human EFHC1

Applications

ELISA, IHC-P, IHC-F, IF

Purification

Purified by Protein A.

Concentration

1µg/µl

Dilution

ELISA (ELISA=1:5000-10000), IHC-P (IHC-P=1:100-500), IHC-F (IHC-F=1:100-500), IF (IF=1:50-200)

Buffer

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

Modification

Unmodified

Storage Conditions

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

Gene ID URL

114327

Curated Selection

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