COG7 gene

component of oligomeric golgi complex 7

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

From NCBI Gene:

The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]

From UniProt:

Required for normal Golgi function.

From NCBI Gene:

  • Congenital disorder of glycosylation type 2E

From UniProt:

Congenital disorder of glycosylation 2E (CDG2E): 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. [MIM:608779]

Cytogenetic Location: 16p12.2, which is the short (p) arm of chromosome 16 at position 12.2

Molecular Location: base pairs 23,388,493 to 23,453,215 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p12.2, which is the short (p) arm of chromosome 16 at position 12.2