POMGNT2, also known as GTDC2 or AGO61, is a protein O-linked mannose β1,4-N-acetylglucosaminyltransferase 2. POMGNT2 transfers GlcNAc to the C4 position of O-mannose on a-dystroglycan. Mutations in POMGNT2 cause lack of O-mannosyl trisaccharide (GalNAc-GlcNAc-Man-Ser/Thr), which is a precursor of laminin-binding glycans to regulate cellular ashesion to the basal membrane.
Keyword:
O-mannose
, congenital muscular dystrophy
, dystroglycanopathy
, α-dystroglycan
|
|
|
|
JCGG-STR032527
GlyTouCan:
G61491DK
GlyCosmos Glycans:
G61491DK
|
JCGG-STR023421
GlyTouCan:
G97041TX
GlyCosmos Glycans:
G97041TX
|
| POMGNT2 Alias | |
| Designation | |
| Organism | Homo sapiens |
| GeneID | 84892 |
| HGNC | POMGNT2 (25902) |
| mRNA | NM_032806 |
| map | |
| Protein | NP_116195 |
| EC# | |
| CAZy | |
| GlyCosmos Glycogenes | POMGNT2 |
| OMIM | 614828 |
| GDGDB | |
| Human Protein Atlas | ENSG00000144647 |
