COG1 gene

component of oligomeric golgi complex 1

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

From NCBI Gene:

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]

From UniProt:

Required for normal Golgi function.

From NCBI Gene:

  • Congenital disorder of glycosylation type 2G

From UniProt:

Congenital disorder of glycosylation 2G (CDG2G): 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 CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation. [MIM:611209]

Cytogenetic Location: 17q25.1, which is the long (q) arm of chromosome 17 at position 25.1

Molecular Location: base pairs 73,193,034 to 73,208,507 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q25.1, which is the long (q) arm of chromosome 17 at position 25.1
  • CDG2G
  • LDLB