COG8 gene

component of oligomeric golgi complex 8

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]

From UniProt:

Required for normal Golgi function.

From NCBI Gene:

  • Congenital disorder of glycosylation type 2H

From UniProt:

Congenital disorder of glycosylation 2H (CDG2H): 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. [MIM:611182]

Cytogenetic Location: 16q22.1, which is the long (q) arm of chromosome 16 at position 22.1

Molecular Location: base pairs 69,328,621 to 69,339,623 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q22.1, which is the long (q) arm of chromosome 16 at position 22.1
  • CDG2H
  • DOR1