Required for normal Golgi function.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the COG5 family.
GOLTC1, GTC90, COG5, Conserved oligomeric Golgi complex subunit 5, COG complex subunit 5, 13S Golgi transport complex 90 kDa subunit, Component of oligomeric Golgi complex 5, Golgi transport complex 1, GTC-90
Proteins
Neuroscience
92743Da
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