COG6
Function
Required for normal Golgi function.
Involvement in disease
Congenital disorder of glycosylation 2L
CDG2L
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. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Shaheen syndrome
SHNS
An autosomal recessive syndrome characterized by severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the COG6 family.
Cellular localization
- Golgi apparatus membrane
- Peripheral membrane protein
Alternative names
KIAA1134, COG6, Conserved oligomeric Golgi complex subunit 6, COG complex subunit 6, Component of oligomeric Golgi complex 6