Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
+1 credit
Thank you for your contribution! You can also upload a video entry or images related to this topic.
For video creation, please contact our Academic Video Service.
| Version | Summary | Created by | Modification | Content Size | Created at | Operation |
|---|---|---|---|---|---|---|
| 1 | Vicky Zhou | + 453 word(s) | 453 | 2020-12-15 07:46:54 |
Video Upload Options
We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Zhou, V. CAVIN1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5078 (accessed on 22 September 2026).
Zhou V. CAVIN1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5078. Accessed September 22, 2026.
Zhou, Vicky. "CAVIN1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5078 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CAVIN1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5078
Zhou, Vicky. "CAVIN1 Gene." Encyclopedia. Web. 24 December, 2020.
Copy Citation
caveolae associated protein 1
genes
References
- Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE,Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I. Human PTRF mutationscause secondary deficiency of caveolins resulting in muscular dystrophy withgeneralized lipodystrophy. J Clin Invest. 2009 Sep;119(9):2623-33. doi:10.1172/JCI38660.
- Hill MM, Bastiani M, Luetterforst R, Kirkham M, Kirkham A, Nixon SJ, Walser P,Abankwa D, Oorschot VM, Martin S, Hancock JF, Parton RG. PTRF-Cavin, a conserved cytoplasmic protein required for caveola formation and function. Cell. 2008 Jan11;132(1):113-24. doi: 10.1016/j.cell.2007.11.042.
- Liu L, Pilch PF. A critical role of cavin (polymerase I and transcript releasefactor) in caveolae formation and organization. J Biol Chem. 2008 Feb15;283(7):4314-22.
- Low JY, Nicholson HD. Emerging role of polymerase-1 and transcript releasefactor (PTRF/ Cavin-1) in health and disease. Cell Tissue Res. 2014Sep;357(3):505-13. doi: 10.1007/s00441-014-1964-z.
- Rajab A, Straub V, McCann LJ, Seelow D, Varon R, Barresi R, Schulze A, LuckeB, Lützkendorf S, Karbasiyan M, Bachmann S, Spuler S, Schuelke M. Fatal cardiacarrhythmia and long-QT syndrome in a new form of congenital generalizedlipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoSGenet. 2010 Mar 12;6(3):e1000874. doi: 10.1371/journal.pgen.1000874.
- Shastry S, Delgado MR, Dirik E, Turkmen M, Agarwal AK, Garg A. Congenitalgeneralized lipodystrophy, type 4 (CGL4) associated with myopathy due to novelPTRF mutations. Am J Med Genet A. 2010 Sep;152A(9):2245-53. doi:10.1002/ajmg.a.33578.
More
Information
Subjects:
Genetics & Heredity
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
:
View Times:
690
Entry Collection:
MedlinePlus
Revision:
1 time
(View History)
Update Date:
24 Dec 2020
Table of Contents
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
Back
Comments
${ item }
|
${ item.createdUser.fullName }
${ item.createdAt }
${ item.vote }
${ item.reply }
Delete
${ reply.createdUser.fullName }
${ reply.createdAt }
${ reply.vote }
Delete
There is no reply to this comment~
${ item.replyTextCharacter }/${ item.replyMaxCharacter }
Submit
Cancel
More
No more~
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes
No