EFHC1 antibody (AbBy Fluor® 555)

Catalog No. ABIN1400333

Product Details anti-EFHC1 Antibody (AbBy Fluor® 555)

Target: EFHC1 (EF-Hand Domain (C-terminal) Containing 1 (EFHC1))

Reactivity: Human, Mouse, Rat

Host: Rabbit

Clonality: Polyclonal

Conjugate: This EFHC1 antibody is conjugated to AbBy Fluor® 555

Application: Western Blotting (WB), Immunofluorescence (Paraffin-embedded Sections) (IF (p))

Cross-Reactivity: Human, Mouse, Rat

Purification: Purified by Protein A.

Immunogen: KLH conjugated synthetic peptide derived from human EFHC1

Isotype: IgG

Application Details

Application Notes: IF(IHC-P) 1:50-200

Restrictions: For Research Use only

Handling

Format: Liquid

Concentration: 1 μg/μL

Buffer: Aqueous buffered solution containing 0.01M TBS ( pH 7.4) with 1 % BSA, 0.03 % Proclin300 and 50 % Glycerol.

Preservative: ProClin

Precaution of Use: This product contains ProClin: a POISONOUS AND HAZARDOUS SUBSTANCE, which should be handled by trained staff only.

Storage: -20 °C

Storage Comment: Store at -20°C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.

Expiry Date: 12 months

Target Details for EFHC1

Target: EFHC1 (EF-Hand Domain (C-terminal) Containing 1 (EFHC1))

Alternative Name: EFHC1 (EFHC1 Products)

Synonyms: MGC63931 antibody, zgc:63931 antibody, MGC84469 antibody, MGC89313 antibody, dJ304B14.2 antibody, 1700029F22Rik antibody, mRib72-1 antibody, myoclonin1 antibody, EF-hand domain containing 1 antibody, EF-hand domain (C-terminal) containing 1 antibody, EF-hand domain (C-terminal) containing 1 L homeolog antibody, Efhc1 antibody, EFHC1 antibody, efhc1 antibody, efhc1.L antibody

Background:

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.

Gene ID: 114327