Orphanet: Genes

Search for a gene

* (*) mandatory field

COG2 - component of oligomeric golgi complex 2

  • Synonym(s) :
  • Previous symbols and names : LDLC, low density lipoprotein receptor defect C complementing
  • Type : gene with protein product
  • Chromosomal location : 1q42.2
  • OMIM: 606974
  • HGNC: 6546
  • UniProtKB: Q14746
  • Genatlas: COG2
  • Ensembl: ENSG00000135775
  • IUPHAR-DB: -
  • Reactome: Q14746
  • LOVD: COG2

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in COG2-CDG ORPHA:435934
  : Assessed

Additional information

Health care resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.