Kinase D-interacting substrate of 220 kDa or ARMS (ankyrin repeat-rich membrane spanning) is a scaffold protein that in humans is encoded by the KIDINS220gene.[4][5][6]
It is a downstream target of neuronal signaling events initiated by neutrophins and ephrins. Additionally, it was shown to have important roles in the immune system by interacting with the B-cell and T-cell receptor.[7][8]
Molecular biology
The gene is located on the short arm of chromosome 2 (2p25.1) on the Crick strand. It is 116,550 bases in length. It encodes a transmembrane protein that is preferentially expressed in the nervous system. The protein acts as a receptor for the CRKL-C3G complex. Binding this complex results in Rap1-dependent sustained ERK activation. This, in turn, interacts with several pathways the effects of which are under active investigation.
Clinical importance
Heterozygous mutations of this gene have been suggested as a cause of a syndrome consisting of spastic paraplegia, intellectual disability, nystagmus and obesity. Knock out mice with homozygous mutations have non-viable offspring with enlarged cerebral ventricles. A consanginous couple has been reported who suffered from repeated miscarriages in whom homozygous mutations of this gene were found.[9] Post mortem showed enlarged cerebral ventricles and contracted limbs.
^Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK (2017) Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures. Hum Mol Genet 26(19):3792-3796
Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.
The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.
