| 词条 | Sarcospan |
| 释义 |
| Name = sarcospan | caption = | image = | width = | HGNCid = 11322 | Symbol = SSPN | AltSymbols = | EntrezGene = 8082 | OMIM = 601599 | RefSeq = | UniProt = | PDB = | ECnumber = | Chromosome = 12 | Arm = p | Band = 11.2 | LocusSupplementaryData = }} Originally identified as Kirsten ras associated gene (krag),[1] Sarcospan (SSPN) (is a 25-kDa transmembrane protein located in the dystrophin-associated protein complex of skeletal muscle cells, where it is most abundant.[1] It contains four transmembrane spanning helices with both N- and C-terminal domains located intracellularly.[1] Loss of SSPN expression occurs in patients with Duchenne muscular dystrophy. Dystrophin is required for proper localization of SSPN.[1] SSPN is also an essential regulator of Akt signaling pathways. Without SSPN, Akt signaling pathways will be hindered and muscle regeneration will not occur.[2] Sarcospan in Muscular DystrophyThe loss of dystrophin results in muscular dystrophy.[3] SSPN upregulates the levels of Utrophin-glycoprotein complex (UGC) to make up for the loss of dystrophin in the neuromuscular junction.[3] Sarcoglycans bind to SSPN and form the SG-SSPN complex, which interacts with dystroglycans (DG) and Utrophin leading to the formation of the UGC.[4] SSPN regulates the amount of Utrophin produced by the UGC to restore laminin binding due to the absence of dystrophin.[5] If laminin binding is not restored by SSPN, contraction of the membrane is present.[5] In dystrophic mdx mice, SSPN increases levels of Utrophin and restores the levels of laminin binding, reducing the symptoms of muscular dystrophy [5] References1. ^1 {{cite journal | vauthors = Crosbie RH, Heighway J, Venzke DP, Lee JC, Campbell KP | title = Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex | journal = The Journal of Biological Chemistry | volume = 272 | issue = 50 | pages = 31221–4 | date = December 1997 | pmid = 9395445 | doi = 10.1074/jbc.272.50.31221 }} 2. ^1 2 {{cite journal | vauthors = Marshall JL, Crosbie-Watson RH | title = Sarcospan: a small protein with large potential for Duchenne muscular dystrophy | journal = Skeletal Muscle | volume = 3 | issue = 1 | pages = 1 | date = January 2013 | pmid = 23282144 | doi = 10.1186/2044-5040-3-1 }} 3. ^1 {{cite journal | vauthors = Peter AK, Marshall JL, Crosbie RH | title = Sarcospan reduces dystrophic pathology: stabilization of the utrophin-glycoprotein complex | journal = The Journal of Cell Biology | volume = 183 | issue = 3 | pages = 419–27 | date = November 2008 | pmid = 18981229 | pmc = 2575773 | doi = 10.1083/jcb.200808027 }} 4. ^{{cite journal | vauthors = Marshall JL, Oh J, Chou E, Lee JA, Holmberg J, Burkin DJ, Crosbie-Watson RH | title = Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin | journal = Human Molecular Genetics | volume = 24 | issue = 7 | pages = 2011–22 | date = April 2015 | pmid = 25504048 | pmc = 4355028 | doi = 10.1093/hmg/ddu615 }} 5. ^1 2 {{cite journal | vauthors = Marshall JL, Holmberg J, Chou E, Ocampo AC, Oh J, Lee J, Peter AK, Martin PT, Crosbie-Watson RH | title = Sarcospan-dependent Akt activation is required for utrophin expression and muscle regeneration | journal = The Journal of Cell Biology | volume = 197 | issue = 7 | pages = 1009–27 | date = June 2012 | pmid = 22734004 | pmc = 3384411 | doi = 10.1083/jcb.201110032 }} External links
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