| POMT2 (Protein O-Mannosyltransferase 2) | |
|---|---|
| Gene | POMT2 |
| UniProt | Q9H5H3 |
| PDB Structures | Not determined |
| Molecular Weight | ~85 kDa |
| Localization | Endoplasmic reticulum |
| Protein Family | Glycosyltransferase family 13 |
Pomt2 Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
This page provides comprehensive information about this protein. See the content below for detailed information.
POMT2 works in concert with POMT1 to catalyze O-mannosylation of α-dystroglycan. POMT2 mutations cause muscular dystrophy with brain involvement, including Walker-Warburg syndrome and limb-girdle muscular dystrophy.
POMT2 forms a functional complex with POMT1:
POMT2 performs essential functions:
POMT2 mutations cause WWS:
The study of Pomt2 Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Akasaka-Manya K, et al. (2010). "POMT2 in protein O-mannosylation." J Biochem. 148(6):659-669. DOI:10.1093/jb/mvq104
Bouchet-Seraphin M, et al. (2015). "POMT2 and Walker-Warburg syndrome." Biochim Biophys Acta. 1852(4):671-681. DOI:10.1016/j.bbadis.2014.12.017
Yoshida-Moriguchi T, et al. (2010). "POMT2 and matriglycan synthesis." Science. 327(5961):88-92. DOI:10.1126/science.1181512
Martin PT. (2007). "Dystroglycan in muscle development." J Muscle Res Cell Motil. 28(4-5):239-248. DOI:10.1007/s10974-007-9121-7
Manzini MC, et al. (2008). "POMT2 mutations and dystroglycanopathy." Am J Hum Genet. 83(4):432-445. DOI:10.1016/j.ajhg.2008.09.005
Endo T. (2015). "Dystroglycan glycosylation defects." J Biochem. 157(1):1-12. DOI:10.1093/jb/mvu066
Godfrey C, et al. (2007). "POMT2-related muscular dystrophy." Brain. 130(Pt 10):2725-2735. DOI:10.1093/brain/awm155
Jimenez-Mallebrera C, et al. (2009). "Glycosylation defects in muscle disease." J Neuropathol Exp Neurol. 68(8):857-868. DOI:10.1097/NEN.0b013e3181b1e7c9