POMT2 |
Last Update:2022-01-07 |
POMT2 encodes protein O-mannosyltransferase 2. POMT1 and POMT2 transfer Man to the hydroxyl group of Ser or Thr of specific proteins such as alpha-dystroglycan using mannose dolicholate as a sugar donor. POMT1 and POMT2 are multiple transmembrane proteins, respectively, and form a complex in the endoplasmic reticulum to exert enzymatic activities. Both POMT1 and POMT2 genes are known to be causative genes of Walker-Warburg syndrome, a congenital muscular dystrophy.
| POMT2 Alias | |
| Designation | putative protein O-mannosyl-transferase |
| Organism | Homo sapiens |
| GeneID | 29954 |
| HGNC | POMT2 (19743) |
| mRNA | NM_013382 |
| map | 14q24.3 |
| Protein | NP_037514 |
| EC# | 2.4.1.109 |
| CAZy | GT39 |
| GlyCosmos Glycogenes | POMT2 |
| OMIM | 607439 |
| GDGDB | |
| Human Protein Atlas | ENSG00000009830 |
data available from v22.proteinatlas.org