Sarcoglycan: Difference between revisions
Content deleted Content added
→Genes: wik |
→top: several to six adding epsilon and ref |
||
| (22 intermediate revisions by 18 users not shown) | |||
| Line 1: | Line 1: | ||
{{Pfam_box |
|||
| ⚫ | |||
| Symbol = Sarcoglycan_1 |
|||
| Name = Sarcoglycan beta/gamma/delta |
|||
| image = |
|||
| width = |
|||
| caption = |
|||
| Pfam = PF04790 |
|||
| InterPro = IPR006875 |
|||
| SMART = |
|||
| PROSITE = |
|||
| SCOP = |
|||
| TCDB = |
|||
| OPM family = |
|||
| OPM protein = |
|||
| PDB = |
|||
| Membranome superfamily = 117 |
|||
}} |
|||
{{Pfam_box |
|||
| Symbol = Sarcoglycan_2 |
|||
| Name = Sarcoglycan alpha/epsilon |
|||
| image = |
|||
| width = |
|||
| caption = |
|||
| Pfam = PF05510 |
|||
| InterPro = IPR008908 |
|||
| SMART = |
|||
| PROSITE = |
|||
| SCOP = |
|||
| TCDB = |
|||
| OPM family = |
|||
| OPM protein = |
|||
| PDB = |
|||
}} |
|||
| ⚫ | The '''sarcoglycans''' are a family of [[transmembrane protein]]s<ref>{{MeshName|Sarcoglycans}}</ref> (α, β, γ, δ or ε) involved in the [[protein complex]] responsible for connecting the muscle fibre [[cytoskeleton]] to the [[extracellular matrix]], preventing damage to the muscle fibre [[sarcolemma]] through shearing forces. |
||
The [[dystrophin]] glycoprotein complex (DGC) is a membrane-spanning complex that links the interior cytoskeleton to the extracellular matrix in muscle. The '''sarcoglycan complex''' is a subcomplex within the DGC and is composed of six muscle-specific, transmembrane proteins (alpha-, beta-, gamma-, delta-, epsilon-,and zeta-sarcoglycan).<ref name="NIH">{{cite web |title=SGCZ sarcoglycan zeta [Homo sapiens (human)] - Gene - NCBI |url=https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=137868 |website=www.ncbi.nlm.nih.gov |access-date=1 December 2021}}</ref> The sarcoglycans are asparagine-linked glycosylated proteins with single transmembrane domains.<ref name="PUB00008631">{{cite journal | vauthors = Chockalingam PS, Cholera R, Oak SA, Zheng Y, Jarrett HW, Thomason DB | title = Dystrophin-glycoprotein complex and Ras and Rho GTPase signaling are altered in muscle atrophy | journal = American Journal of Physiology. Cell Physiology | volume = 283 | issue = 2 | pages = C500-11 | date = August 2002 | pmid = 12107060 | doi = 10.1152/ajpcell.00529.2001 }}</ref><ref name="PUB00008632">{{cite journal | vauthors = Wheeler MT, Zarnegar S, McNally EM | title = Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy | journal = Human Molecular Genetics | volume = 11 | issue = 18 | pages = 2147–54 | date = September 2002 | pmid = 12189167 | doi = 10.1093/hmg/11.18.2147 | doi-access = free }}</ref> |
|||
Mutations in the α, β, γ or δ genes (not ε) encoding these proteins can lead to the associated [[limb-girdle muscular dystrophy]]. |
The disorders caused by the mutations of the sarcoglycans are called [[sarcoglycanopathies]]. Mutations in the α, β, γ or δ genes (not ε) encoding these proteins can lead to the associated [[limb-girdle muscular dystrophy]]. |
||
==Genes== |
==Genes== |
||
* [[SGCA]] |
* [[SGCA]] |
||
* [[SGCB]] |
* [[SGCB]] |
||
* [[ |
* [[Delta-sarcoglycan|SGCD]] |
||
* [[SGCD]] |
|||
* [[SGCE]] |
* [[SGCE]] |
||
* [[SGCG]] |
* [[SGCG]] |
||
* [[SGCZ]] |
* [[SGCZ]] |
||
== References == |
|||
| ⚫ | |||
{{reflist}} |
|||
{{Muscle tissue}} |
{{Muscle tissue}} |
||
| ⚫ | |||
{{InterPro content|IPR006875}} |
|||
| ⚫ | |||
| ⚫ | |||
Latest revision as of 12:37, 1 December 2021
| Sarcoglycan beta/gamma/delta | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | Sarcoglycan_1 | ||||||||
| Pfam | PF04790 | ||||||||
| InterPro | IPR006875 | ||||||||
| Membranome | 117 | ||||||||
| |||||||||
| Sarcoglycan alpha/epsilon | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | Sarcoglycan_2 | ||||||||
| Pfam | PF05510 | ||||||||
| InterPro | IPR008908 | ||||||||
| |||||||||
The sarcoglycans are a family of transmembrane proteins[1] (α, β, γ, δ or ε) involved in the protein complex responsible for connecting the muscle fibre cytoskeleton to the extracellular matrix, preventing damage to the muscle fibre sarcolemma through shearing forces.
The dystrophin glycoprotein complex (DGC) is a membrane-spanning complex that links the interior cytoskeleton to the extracellular matrix in muscle. The sarcoglycan complex is a subcomplex within the DGC and is composed of six muscle-specific, transmembrane proteins (alpha-, beta-, gamma-, delta-, epsilon-,and zeta-sarcoglycan).[2] The sarcoglycans are asparagine-linked glycosylated proteins with single transmembrane domains.[3][4]
The disorders caused by the mutations of the sarcoglycans are called sarcoglycanopathies. Mutations in the α, β, γ or δ genes (not ε) encoding these proteins can lead to the associated limb-girdle muscular dystrophy.
Genes
[edit]References
[edit]- ^ Sarcoglycans at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- ^ "SGCZ sarcoglycan zeta [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 1 December 2021.
- ^ Chockalingam PS, Cholera R, Oak SA, Zheng Y, Jarrett HW, Thomason DB (August 2002). "Dystrophin-glycoprotein complex and Ras and Rho GTPase signaling are altered in muscle atrophy". American Journal of Physiology. Cell Physiology. 283 (2): C500-11. doi:10.1152/ajpcell.00529.2001. PMID 12107060.
- ^ Wheeler MT, Zarnegar S, McNally EM (September 2002). "Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy". Human Molecular Genetics. 11 (18): 2147–54. doi:10.1093/hmg/11.18.2147. PMID 12189167.
 | This protein-related article is a stub. You can help Wikipedia by expanding it. |