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重组人G1氨基丁酸A型受体α1蛋白

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产品编号bs-42256P
英文名称Recombinant human GABRA1 protein, N-His
中文名称重组人G1氨基丁酸A型受体α1蛋白
别    名ECA4; EJM; EJM5; Gaba receptor alpha 1 polypeptide; GABA(A) receptor; GABA(A) receptor subunit alpha 1; GABA(A) receptor subunit alpha-1; GABA(A) receptor, alpha 1; GABRA 1; GABRA1; Gamma aminobutyric acid (GABA) A receptor alpha 1; Gamma aminobutyric acid A receptor alpha 1; Gamma aminobutyric acid receptor subunit alpha 1; Gamma-aminobutyric acid receptor subunit alpha-1; GBRA1_HUMAN.  
理论分子量28.1kDa
性    状Lyophilized or Liquid
浓    度>1mg/ml
物    种Human
序    列28-251/456
纯    度>90% as determined by SDS-PAGE
纯化方法AC
内毒素Not analyzed
表达系统E.coli
标签N-His
缓 冲 液20mM Tris-Hcl (pH=8.0) with 8M Urea
保存条件Stored at -70℃ or -20℃. Avoid repeated freeze/thaw cycles.
注意事项This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
产品介绍GAD-65 and GAD-67, glutamate decarboxylases, function to catalyze the production of GABA (g-aminobutyric acid). In the central nervous system GABA functions as the main inhibitory transmitter by increasing a Cl-conductance that inhibits neuronal firing. GABA has been shown to activate both ionotropic (GABAA) and metabotropic (GABAB) receptors as well as a third class of receptors called GABAC. Both GABAA and GABAC are ligand-gated ion channels, however, they are structurally and functionally distinct. Members of the GABAA receptor family include GABAA R alpha 1-6, GABAA R beta 1-3, GABAA R?1-3, GABAA R?, GABAA R gamma, GABAA R delta 1 and GABAA R delta 2. The GABAB family is composed of GABAB R1 alpha and GABAB R1 beta. GABA transporters have also been identified and include GABA T-1, GABA T-2 and GABA T-3 (also designated GAT-1, -2 and -3). The GABA transporters function to terminate GABA action.

SWISS:
P14867

Gene ID:
2554

Involvement in disease: Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4). A subtype of idiopathic generalized epilepsy characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures may develop. Absence seizures may either remit or persist into adulthood. Defects in GABRA1 are the cause of juvenile myoclonic epilepsy type 5 (EJM5) [MIM:611136]. A subtype of idiopathic generalized epilepsy. 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.
产品图片
The purity of the protein is greater than 90% as determined by reducing SDS-PAGE.
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