| Family: | BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE II (PTHR12871) | ||
| Subfamilies: | 1 | ||
| PANTHER Links: |
|
||
| Abstract: |
N-acetylglucosaminyltransferase II (EC: 2.4.1.143) is a Golgi resident enzyme that catalyzes an essential step in the biosynthetic pathway leading from high mannose to complex N-linked oligosaccharides [PMID:7797505]. Mutations in the MGAT2 gene lead to a congenital disorder of glycosylation (CDG IIa). CDG IIa patients have an increased bleeding tendency, unrelated to coagulation factors [PMID:11596651]. Synonym(s): UDP-N-acetyl-D-glucosamine:alpha-6-D-mannoside beta-1,2-N- acetylglucosaminyltransferase II, GnT II/MGAT2. |
||
| InterPro Accession: | IPR007754 | ||
| PANTHER Molecular Function: |
|
||
| PANTHER Biological Process: |
|
||
| Pathway Categories: | No pathway information available | ||
| Training Sequences: |
19
|
||
| HMM Length | 399 | ||
| Downloads: | HMM (HMMER format) |
Genes assigned to this Family
| Total | Celera | FlyBase | NCBI | |
| H. sapiens | 2 | 1 | 0 | 1 |
| M. musculus | 2 | 1 | 0 | 1 |
| R. norvegicus | 2 | 1 | 0 | 1 |
| D. melanogaster | 1 | 0 | 1 | 0 |




