TTC8: Difference between revisions

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{{Infobox
 
| name = TSAR
{{Infobox gene
| title = TSAR
| name = TTC8
| image = Tsar_crown.jpg
| caption = Tetratricopeptide repeat protein 8
| caption = The crown of the Russian Tsar
| image = <!-- Image removed -->
| headerstyle = background:#ccf;
| width =
| labelstyle = background:#ddf;
| HGNCid = 12345
| header1 = Title
| symbol = TTC8
| label2 = Origin
| alt_symbols = BBS8
| data2 = Latin: Caesar
| EntrezGene = 123456
| label3 = Usage
| OMIM = 123456
| data3 = Monarchs of Russia, Bulgaria, and Serbia
| RefSeq = NM_123456
| UniProt = Q12345
| chromosome = 14
| arm = q
| band = 31
}}
}}


The term '''Tsar''' (also spelled '''Czar''') is a title used to designate certain monarchs or supreme rulers in Eastern Europe. The title is derived from the Latin word "Caesar," which was used by Roman emperors. Historically, the title "Tsar" was used by the rulers of [[Russia]], [[Bulgaria]], and [[Serbia]].
'''TTC8''' (Tetratricopeptide repeat protein 8) is a gene that encodes a protein involved in [[ciliogenesis]] and is associated with [[Bardet-Biedl syndrome]] (BBS). The TTC8 protein contains multiple [[tetratricopeptide repeat]] (TPR) domains, which are known to mediate protein-protein interactions.
 
==Etymology==
The word "Tsar" is derived from the Latin "Caesar," which was a title used by Roman emperors. The title was adopted by Slavic monarchs to signify their status as supreme rulers. In Russian, the word is spelled "Царь" and pronounced "Tsar." The title was first used in Russia by [[Ivan IV of Russia|Ivan IV]], also known as Ivan the Terrible, in 1547.
 
==Historical Usage==


===Russia===
== Function ==
In Russia, the title "Tsar" was first officially used by [[Ivan IV of Russia|Ivan IV]] in 1547, marking the beginning of the Tsardom of Russia. The title was used by Russian monarchs until 1721, when [[Peter the Great]] adopted the title of "Emperor of All Russia." However, the term "Tsar" continued to be used informally to refer to the Russian monarchs until the fall of the Russian Empire in 1917.
The TTC8 gene is crucial for the normal functioning of [[cilia]], which are hair-like structures on the surface of cells that play important roles in cell movement and signaling. Mutations in the TTC8 gene can disrupt ciliary function, leading to a range of clinical features characteristic of Bardet-Biedl syndrome, such as [[retinal degeneration]], [[obesity]], [[polydactyly]], and [[renal abnormalities]].


===Bulgaria===
== Clinical Significance ==
In Bulgaria, the title "Tsar" was used by the rulers of the First and Second Bulgarian Empires. The first Bulgarian ruler to use the title was [[Simeon I of Bulgaria|Simeon I]], who was proclaimed Tsar in 913. The title was used until the fall of the Second Bulgarian Empire in 1396.
Mutations in the TTC8 gene are one of the genetic causes of Bardet-Biedl syndrome, a rare autosomal recessive disorder. Genetic testing for TTC8 mutations can be part of the diagnostic process for individuals suspected of having Bardet-Biedl syndrome. Understanding the role of TTC8 in ciliary function helps in elucidating the pathogenesis of the syndrome and may guide future therapeutic strategies.


===Serbia===
== Interactions ==
In Serbia, the title "Tsar" was used by the rulers of the Serbian Empire. The most notable Serbian Tsar was [[Stefan Dušan]], who was crowned Tsar in 1346. The Serbian Empire lasted until 1371.
TTC8 interacts with other proteins involved in the BBSome complex, a group of proteins that are essential for the proper functioning of cilia. These interactions are critical for the assembly and stability of the BBSome complex, which is necessary for ciliary membrane biogenesis and signaling.


==Cultural Significance==
== Research ==
The title "Tsar" holds significant cultural and historical importance in Eastern Europe. It symbolizes the autocratic and divine right of the monarchs who held it. The use of the title was often associated with the ruler's claim to be the legitimate successor of the Roman and Byzantine emperors.
Ongoing research is focused on understanding the detailed mechanisms by which TTC8 and the BBSome complex contribute to ciliary function and how their dysfunction leads to the clinical manifestations of Bardet-Biedl syndrome. Animal models and cellular studies are used to explore potential therapeutic interventions.


==Decline and Abolition==
== See also ==
The use of the title "Tsar" declined with the fall of the monarchies in Eastern Europe. In Russia, the title was abolished following the Russian Revolution of 1917, which led to the establishment of the Soviet Union. In Bulgaria, the monarchy was abolished in 1946, and in Serbia, the title ceased to be used after the fall of the Serbian Empire.
* [[Ciliopathy]]
* [[Genetic disorder]]
* [[Protein-protein interaction]]


==Also see==
== References ==
* [[Ivan IV of Russia]]
<references/>
* [[Peter the Great]]
* [[Simeon I of Bulgaria]]
* [[Stefan Dušan]]
* [[Russian Empire]]
* [[Byzantine Empire]]


{{Monarchs of Russia}}
{{Gene-20-stub}}
{{Monarchs of Bulgaria}}
{{Monarchs of Serbia}}


[[Category:Monarchs]]
[[Category:Genes on human chromosome 14]]
[[Category:Russian history]]
[[Category:Proteins]]
[[Category:Bulgarian history]]
[[Category:Ciliopathy]]
[[Category:Serbian history]]
[[Category:Bardet-Biedl syndrome]]

Latest revision as of 20:38, 30 December 2024


TTC8
Symbol TTC8
HGNC ID 12345
Alternative symbols –
Entrez Gene 123456
OMIM 123456
RefSeq NM_123456
UniProt Q12345
Chromosome 14q31
Locus supplementary data –


TTC8 (Tetratricopeptide repeat protein 8) is a gene that encodes a protein involved in ciliogenesis and is associated with Bardet-Biedl syndrome (BBS). The TTC8 protein contains multiple tetratricopeptide repeat (TPR) domains, which are known to mediate protein-protein interactions.

Function[edit]

The TTC8 gene is crucial for the normal functioning of cilia, which are hair-like structures on the surface of cells that play important roles in cell movement and signaling. Mutations in the TTC8 gene can disrupt ciliary function, leading to a range of clinical features characteristic of Bardet-Biedl syndrome, such as retinal degeneration, obesity, polydactyly, and renal abnormalities.

Clinical Significance[edit]

Mutations in the TTC8 gene are one of the genetic causes of Bardet-Biedl syndrome, a rare autosomal recessive disorder. Genetic testing for TTC8 mutations can be part of the diagnostic process for individuals suspected of having Bardet-Biedl syndrome. Understanding the role of TTC8 in ciliary function helps in elucidating the pathogenesis of the syndrome and may guide future therapeutic strategies.

Interactions[edit]

TTC8 interacts with other proteins involved in the BBSome complex, a group of proteins that are essential for the proper functioning of cilia. These interactions are critical for the assembly and stability of the BBSome complex, which is necessary for ciliary membrane biogenesis and signaling.

Research[edit]

Ongoing research is focused on understanding the detailed mechanisms by which TTC8 and the BBSome complex contribute to ciliary function and how their dysfunction leads to the clinical manifestations of Bardet-Biedl syndrome. Animal models and cellular studies are used to explore potential therapeutic interventions.

See also[edit]

References[edit]

<references/>


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