Muscle-specific receptor tyrosine kinase
| Muscle specific receptor tyrosine kinase | ||
|---|---|---|
| Mass / length primary structure | 869 AA | |
| Identifier | ||
| Gene name (s) | MUSK | |
| External IDs | ||
| Orthologue | ||
| human | House mouse | |
| Entrez | 4593 | 18198 |
| Ensemble | ENSG00000030304 | ENSMUSG00000057280 |
| UniProt | O15146 | Q61006 |
| Refseq (mRNA) | NM_001166280 | NM_001037127 |
| Refseq (protein) | NP_001159752 | NP_001032204 |
| Gene locus | Chr 9: 110.67 - 110.81 Mb | Chr 4: 58.29 - 58.38 Mb |
| PubMed search | 4593 |
18198
|
The muscle-specific receptor tyrosine kinase ( MuSK ), also called muscle- specific kinase , is a “single-pass” transmembrane protein that is formed in muscle cells in the area of the postsynaptic membrane of the neuromuscular endplate . It is made of MUSK gene that in humans to chromosome 9 is located, encoding ( locus 9q31). The enzyme is involved in the phosphorylation of tyrosine residues as a tyrosine kinase . It plays an important role in both the formation (embryonic) and the maintenance of the neuromuscular endplate.
Protein structure
In the N-terminal region, which is extracellular, MuSK has 3 immunoglobulin-like (Ig-like) domains and a cysteine- rich Frizzled -like domain. The tyrosine kinase domain is located at the C-terminal .
function
The muscle-specific receptor tyrosine kinase is the enzyme agrin activated, the on motor neurons is, that is, from nerve terminals at the neuromuscular junction, distributed. Activation leads to Rapsyn -dependent “clusters” of acetylcholine receptors via signal transduction .
Medical significance of MuSK
Certain mutations in MUSK gene lead to congenital myasthenic syndrome with acetylcholine receptor deficiency (Engl. Congenital myasthenic syndrome with acetylcholine receptor deficiency , shortly CMS ACHRd ). Antibodies against the MuSK protein can lead to an autoimmune disease called myasthenia gravis .
Individual evidence
- ↑ a b c J. J. Plomp, MG Huijbers u. a .: Pathogenic IgG4 subclass autoantibodies in MuSK myasthenia gravis. In: Annals of the New York Academy of Sciences . Volume 1275, December 2012, pp. 114-122, ISSN 1749-6632 . doi : 10.1111 / j.1749-6632.2012.06808.x . PMID 23278586 . (Review).
- ↑ MUSK. In: Online Mendelian Inheritance in Man . (English), last accessed October 4, 2013
- ↑ M. Freissmuth: Receptor tyrosine kinases and growth factors . In: Pharmakologie & Toxikologie , Springer-Verlag, 2012, p. 167, ISBN 978-3-642-12354-2
- ^ BM Conti-Fine, M. Milani, HJ Kaminski: Myasthenia gravis: past, present, and future. In: The Journal of clinical investigation. Volume 116, Number 11, November 2006, pp. 2843-2854, ISSN 0021-9738 . doi : 10.1172 / JCI29894 . PMID 17080188 . PMC 1626141 (free full text). (Review).
further reading
- N. Singhal, PT Martin: Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction. In: Developmental neurobiology. Volume 71, Number 11, November 2011, pp. 982-1005, ISSN 1932-846X . doi : 10.1002 / new 20953 . PMID 21766463 . PMC 3472639 (free full text). (Review).
- N. Ghazanfari, KJ Fernandez et al. a .: Muscle specific kinase: organizer of synaptic membrane domains. In: The international journal of biochemistry & cell biology. Volume 43, Number 3, March 2011, pp. 295-298, ISSN 1878-5875 . doi : 10.1016 / j.biocel.2010.10.008 . PMID 20974278 . (Review).
- R. Madhavan, HB Peng: Molecular regulation of postsynaptic differentiation at the neuromuscular junction. In: IUBMB life. Volume 57, Number 11, November 2005, pp. 719-730, ISSN 1521-6543 . doi : 10.1080 / 15216540500338739 . PMID 16511964 . (Review).
- L. Strochlic, A. Cartaud, J. Cartaud: The synaptic muscle-specific kinase (MuSK) complex: new partners, new functions. In: BioEssays: news and reviews in molecular, cellular and developmental biology. Volume 27, Number 11, November 2005, pp. 1129-1135, ISSN 0265-9247 . doi : 10.1002 / bies.20305 . PMID 16237673 . (Review).