The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
WB: Use at a concentration of 0.03 - 0.1 µg/ml. Detects a band of approximately 85 kDa.
Peptide ELISA: antibody detection limit dilution 1:32,000.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Required for normal Golgi function.
Involvement in 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.