Collybistin

fix date values in citation, so that the error message appearing in "References" section is now removed

← Previous revision Revision as of 08:26, 19 April 2026 Line 34: Line 34: The gene [[ARHGEF9]] (aka ARHDH) codes for Collybistin. Through [[immunohistochemistry]]<ref>{{Cite journal |last=Ibaraki|first=Kyoko|last2=Mizuno|first2=Makoto|last3=Aoki|first3=Hitomi|last4=Niwa|first4=Ayumi|last5=Iwamoto|first5=Ikuko|last6=Hara|first6=Akira|last7=Tabata|first7=Hidenori|last8=Ito|first8=Hidenori|last9=Nagata|first9=Koh-ichi|date=2018|title=Biochemical and Morphological Characterization of a Guanine Nucleotide Exchange Factor ARHGEF9 in Mouse Tissues|url=https://www.jstage.jst.go.jp/article/ahc/51/3/51_18009/_article/-char/ja/|journal=Acta Histochemica Et Cytochemica|volume=51|issue=3|pages=119–128|doi=10.1267/ahc.18009}}</ref> it was discovered that the production of collybistin changes throughout developmental stages of organisms. Additionally, ARHGEF9 can be found in various regions of the brain, such as the [[Cerebral cortex|cerbral cortex]], [[hippocampus]] and [[cerebellum]], but only in locations where [[neurological]] synapse fire. The gene [[ARHGEF9]] (aka ARHDH) codes for Collybistin. Through [[immunohistochemistry]]<ref>{{Cite journal |last=Ibaraki|first=Kyoko|last2=Mizuno|first2=Makoto|last3=Aoki|first3=Hitomi|last4=Niwa|first4=Ayumi|last5=Iwamoto|first5=Ikuko|last6=Hara|first6=Akira|last7=Tabata|first7=Hidenori|last8=Ito|first8=Hidenori|last9=Nagata|first9=Koh-ichi|date=2018|title=Biochemical and Morphological Characterization of a Guanine Nucleotide Exchange Factor ARHGEF9 in Mouse Tissues|url=https://www.jstage.jst.go.jp/article/ahc/51/3/51_18009/_article/-char/ja/|journal=Acta Histochemica Et Cytochemica|volume=51|issue=3|pages=119–128|doi=10.1267/ahc.18009}}</ref> it was discovered that the production of collybistin changes throughout developmental stages of organisms. Additionally, ARHGEF9 can be found in various regions of the brain, such as the [[Cerebral cortex|cerbral cortex]], [[hippocampus]] and [[cerebellum]], but only in locations where [[neurological]] synapse fire.

Any mutations within this gene may cause various negative symptoms within the organism. The organism may experience things such as intellectual disabilities, [[Anxiety disorder|anxiety]],<ref>{{Cite journal |last=Saiepour|first=Leila|last2=Fuchs|first2=Celine|last3=Patrizi|first3=Annarita|last4=Sassoè-Pognetto|first4=Marco|last5=Harvey|first5=Robert J.|last6=Harvey|first6=Kirsten|date=2010-09-01|title=Complex Role of Collybistin and Gephyrin in GABAA Receptor Clustering[S]*|url=https://www.sciencedirect.com/science/article/pii/S002192582052680X|journal=Journal of Biological Chemistry|volume=285|issue=38|pages=29623–29631|doi=10.1074/jbc.M110.121368|issn=0021-9258}}</ref> [[hyperekplexia]],<ref>{{Cite journal |last=Wang |first=Jing-Yang |last2=Zhou |first2=Peng |last3=Wang |first3=Jie |last4=Tang |first4=Bin |last5=Su |first5=Tao |last6=Liu |first6=Xiao-Rong |last7=Li |first7=Bing-Mei |last8=Meng |first8=Heng |last9=Shi |first9=Yi-Wu |last10=Yi |first10=Yong-Hong |last11=He |first11=Na |last12=Liao |first12=Wei-Ping |date=2018-01-01 |title=ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation |url=https://doi.org/10.1007/s10048-017-0528-2 |journal=neurogenetics |language=en |volume=19 |issue=1 |pages=9–16 |doi=10.1007/s10048-017-0528-2 |issn=1364-6753}}</ref> etc. In a study done in 2011,<ref>{{Cite journal |last=Shimojima |first=Keiko |last2=Sugawara |first2=Midori |last3=Shichiji |first3=Minobu |last4=Mukaida |first4=Souichi |last5=Takayama |first5=Rumiko |last6=Imai |first6=Katsumi |last7=Yamamoto |first7=Toshiyuki |date=2011-08 |title=Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy |url=https://www.nature.com/articles/jhg201158 |journal=Journal of Human Genetics |language=en |volume=56 |issue=8 |pages=561–565 |doi=10.1038/jhg.2011.58 |issn=1435-232X}}</ref> there was a direct link found between a nonsynonymous deletion in the ARHGEF9 gene and mental disability, along with physical disability. Similarly, it has been reported that missense mutations within the gene have also caused mental and physical disabilities to the organism with the mutated gene. Any mutations within this gene may cause various negative symptoms within the organism. The organism may experience things such as intellectual disabilities, [[Anxiety disorder|anxiety]],<ref>{{Cite journal |last=Saiepour|first=Leila|last2=Fuchs|first2=Celine|last3=Patrizi|first3=Annarita|last4=Sassoè-Pognetto|first4=Marco|last5=Harvey|first5=Robert J.|last6=Harvey|first6=Kirsten|date=2010-09-01|title=Complex Role of Collybistin and Gephyrin in GABAA Receptor Clustering[S]*|url=https://www.sciencedirect.com/science/article/pii/S002192582052680X|journal=Journal of Biological Chemistry|volume=285|issue=38|pages=29623–29631|doi=10.1074/jbc.M110.121368|issn=0021-9258}}</ref> [[hyperekplexia]],<ref>{{Cite journal |last=Wang |first=Jing-Yang |last2=Zhou |first2=Peng |last3=Wang |first3=Jie |last4=Tang |first4=Bin |last5=Su |first5=Tao |last6=Liu |first6=Xiao-Rong |last7=Li |first7=Bing-Mei |last8=Meng |first8=Heng |last9=Shi |first9=Yi-Wu |last10=Yi |first10=Yong-Hong |last11=He |first11=Na |last12=Liao |first12=Wei-Ping |date=2018-01-01 |title=ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation |url=https://doi.org/10.1007/s10048-017-0528-2 |journal=neurogenetics |language=en |volume=19 |issue=1 |pages=9–16 |doi=10.1007/s10048-017-0528-2 |issn=1364-6753}}</ref> etc. In a study done in 2011,<ref>{{Cite journal |last=Shimojima |first=Keiko |last2=Sugawara |first2=Midori |last3=Shichiji |first3=Minobu |last4=Mukaida |first4=Souichi |last5=Takayama |first5=Rumiko |last6=Imai |first6=Katsumi |last7=Yamamoto |first7=Toshiyuki |date=August 2011 |title=Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy |url=https://www.nature.com/articles/jhg201158 |journal=Journal of Human Genetics |language=en |volume=56 |issue=8 |pages=561–565 |doi=10.1038/jhg.2011.58 |issn=1435-232X}}</ref> there was a direct link found between a nonsynonymous deletion in the ARHGEF9 gene and mental disability, along with physical disability. Similarly, it has been reported that missense mutations within the gene have also caused mental and physical disabilities to the organism with the mutated gene.

== Isoforms == == Isoforms ==