MOGS gene

mannosyl-oligosaccharide glucosidase

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

From NCBI Gene:

This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

From UniProt:

Cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner.

From NCBI Gene:

  • Congenital disorder of glycosylation type 2B

From UniProt:

Type IIb congenital disorder of glycosylation (CDGIIb): Characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms of the infant included hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course was progressive and the infant did not survive more than a few months. [MIM:606056]

Cytogenetic Location: 2p13.1, which is the short (p) arm of chromosome 2 at position 13.1

Molecular Location: base pairs 74,461,057 to 74,465,410 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p13.1, which is the short (p) arm of chromosome 2 at position 13.1
  • CDG2B
  • CWH41
  • DER7
  • GCS1