Connexin: Difference between revisions

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Of notice, about half of all cases of human pre-lingual recessive deafness in countries surrounding the Mediterranean have been linked to mutations in the  GJB2 gene<ref name='important'>pmid 24624091</ref>,<ref name='Structure'>pmid 19622859</ref>
Of notice, about half of all cases of human pre-lingual recessive deafness in countries surrounding the Mediterranean have been linked to mutations in the  GJB2 gene<ref name='important'>pmid 24624091</ref>,<ref name='Structure'>pmid 19622859</ref>


*'''Connexin 26''' participates in K+ transport in sensory hair cells in the ear and its mutations are causes of deafness<ref>pmid 9285800</ref>
*'''Connexin 31''' mutations are associated with skin and auditory system disorders<ref>PMID 16549784</ref>
*'''Connexin 32''' is found in the peripheral nervous system and its mutations are associated with Charcot-Marie-Tooth disease<ref>PMID 30042657</ref>
*'''Connexin 36''' regulates the in vivo dynamics of insulin secretion which is important for glucose homeostasis<ref>PMID 22511206</ref>
*'''Connexin 40''' is found in the atrial myocardium and its mutations are associated with trial fibrillation<ref>PMID 19535379</ref>
*'''Connexin 43''' renders glioblastoma resistant to chemotherapy<ref>PMID 35022385</ref>
*'''Connexin 45''' is involved in the maturation of vessel<ref>PMID 10976050</ref>
*'''Connexin 46''' is found in the eye lens and is unregulated in human breast cancer<ref>PMID 32353936</ref>
*'''Connexin 50''' functions as adhesive molecule maintaining lens fibre integrity<ref>PMID 28706245</ref>


[[image:co.jpg | thumb |650px | center | The overall connexon's structure]] <ref>http://en.wikipedia.org/wiki/Connexin</ref>
[[image:co.jpg | thumb |650px | center | The overall connexon's structure]] <ref>http://en.wikipedia.org/wiki/Connexin</ref>
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=3D structures of connexin=
=3D structures of connexin=
[[Connexin 3D structure]]


Updated on {{REVISIONDAY2}}-{{MONTHNAME|{{REVISIONMONTH}}}}-{{REVISIONYEAR}}
</StructureSection>
{{#tree:id=OrganizedByTopic|openlevels=0|
 
*Connexin 26
 
**[[2zw3]] – hCX26 – human<br />
**[[3iz1]], [[3iz2]] – hCX26 (mutant) - CryoEM<br />
 
*Connexin 40
 
**[[2k7m]] – CX40 C terminal – rat - NMR<br />
 
*Connexin 43
 
**[[1r5s]] – rCX43 C terminal <br />
}}


= References =
= References =


<references/>
<references/>
[[Category:Topic Page]]

Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

Doaa Naffaa, Safaa Salah Hussiesy, Michal Harel, Jaime Prilusky