| POMT1 (Protein O-Mannosyltransferase 1) | |
|---|---|
| Gene | POMT1 |
| UniProt | Q9Y4G2 |
| PDB Structures | Not determined |
| Molecular Weight | ~84 kDa |
| Localization | Endoplasmic reticulum |
| Protein Family | Glycosyltransferase family 13 |
Pomt1 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.
POMT1 is an endoplasmic reticulum enzyme that catalyzes the first step in O-mannosylation of α-dystroglycan. This modification is essential for the function of dystroglycan at the cell membrane and mutations cause muscular dystrophy with brain involvement.
POMT1 has the characteristic glycosyltransferase fold:
POMT1 performs essential glycosylation:
POMT1 mutations cause severe muscular dystrophy:
The study of Pomt1 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). "POMT1 and protein O-mannosylation." J Biochem. 148(6):659-669. DOI:10.1093/jb/mvq104
Lyalin D, et al. (2012). "The POMT1 complex in Walker-Warburg syndrome." Hum Mol Genet. 21(23):5058-5070. DOI:10.1093/hmg/dds354
Bouchet-Seraphin M, et al. (2015). "POMT1 and muscular dystrophy." Biochim Biophys Acta. 1852(4):671-681. DOI:10.1016/j.bbadis.2014.12.017
Martin PT. (2007). "Dystroglycan glycosylation in muscle." J Muscle Res Cell Motil. 28(4-5):239-248. DOI:10.1007/s10974-007-9121-7
Yoshida-Moriguchi T, et al. (2010). "POMT1 and the matriglycan chain." Science. 327(5961):88-92. DOI:10.1126/science.1181512
Endo T. (2015). "Glycobiology of alpha-dystroglycan." J Biochem. 157(1):1-12. DOI:10.1093/jb/mvu066
Muntoni F, et al. (2008). "Muscular dystrophies due to POMT1 mutations." Brain. 131(Pt 9):2184-2195. DOI:10.1093/brain/awn119
Wells L. (2013). "O-Mannosylation in the nervous system." J Cell Physiol. 228(10):1958-1963. DOI:10.1002/jcp.24276