Product Name	EFHC1
Chinese Name	EFHC1蛋白抗体
Alias	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.
Research Area	Cell biology  immunology  Neurobiology  Signal transduction
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Sheep, )
Applications	ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:50-200 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	74kDa
Cellular localization	cytoplasmic
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human EFHC1: 301-400/640
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	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. Function: May enhance calcium influx through CACNA1E and stimulate programmed cell death. Subunit: Interacts with the C-terminus of CACNA1E. Tissue Specificity: Widely expressed. Not detected in lymphocytes. DISEASE: 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) [MIM:607631]. 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. Similarity: Contains 3 DM10 domains. Contains 1 EF-hand domain. SWISS: Q5JVL4 Gene ID: 114327 Database links: Entrez Gene: 114327 Human Entrez Gene: 71877 Mouse Omim: 608815 Human SwissProt: Q5JVL4 Human SwissProt: Q9D9T8 Mouse Unigene: 403171 Human Unigene: 29178 Mouse

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