MGAT2 gene

mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase

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

From NCBI Gene:

The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

From UniProt:

Catalyzes an essential step in the conversion of oligo-mannose to complex N-glycans.

From NCBI Gene:

  • Carbohydrate-deficient glycoprotein syndrome type II

From UniProt:

Congenital disorder of glycosylation 2A (CDG2A): 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:212066]

Cytogenetic Location: 14q21, which is the long (q) arm of chromosome 14 at position 21

Molecular Location: base pairs 49,620,771 to 49,623,481 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q21, which is the long (q) arm of chromosome 14 at position 21
  • CDG2A
  • CDGS2
  • GLCNACTII
  • GNT-II
  • GNT2