基因名称(Gene Name)
COG7 UNQ3082/PRO10013
免疫原
Synthesized peptide derived from human COG7 AA range: 245-295
特异性
This antibody detects endogenous levels of COG7 at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.332% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
Conserved oligomeric Golgi complex subunit 7 (COG complex subunit 7) (Component of oligomeric Golgi complex 7)
背景
The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010],
功能
disease:Defects in COG7 are the cause of congenital disorder of glycosylation type 2E (CDG2E) [MIM:608779]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.,function:Required for normal Golgi function.,similarity:Belongs to the COG7 family.,subunit:Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localiz
