Function
Required for normal Golgi function.
Biological Context
Subcellular Location: Cytoplasm, cytosol; Golgi apparatus membrane (Peripheral membrane protein)
Disease Association: Congenital disorder of glycosylation 2I (CDG2I) : A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in 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. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Conserved oligomeric Golgi complex subunit 5 (COG5), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-257aa, with N-terminal 10xHis-tagged tag, molecular weight 33.8kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
