COG4

component of oligomeric golgi complex 4

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

From NCBI Gene:

The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

From UniProt:

Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1.

From NCBI Gene:

  • Congenital disorder of glycosylation type 2J

From UniProt:

Congenital disorder of glycosylation 2J (CDG2J): 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:613489]

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

Molecular Location: base pairs 70,480,569 to 70,523,554 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
  • CDG2J
  • COD1