RIMBP2 explained

RIMS binding protein 2 is a protein that in humans is encoded by the RIMBP2 gene.[1] This protein plays a significant role in synaptic transmission and is involved in the regulation of voltage-gated calcium channels, which are crucial for neurotransmitter release at synapses.[2] [3]

Function and characteristics

RIMBP2 is primarily located in the presynaptic active zones of neurons, where it contributes to the organization and maintenance of synaptic structures. It is essential for the proper functioning of synaptic vesicles and calcium-dependent processes that facilitate communication between neurons.[4] [5]

Clinical relevance

Research has indicated that mutations or dysregulation of RIMBP2 may be associated with various neurological disorders, such as Pitt-Hopkins syndrome.[6]

External links

Notes and References

  1. Web site: Entrez Gene: RIMS binding protein 2. 2016-02-11.
  2. Web site: RGD . Rimbp2 (RIMS binding protein 2) - Rat Genome Database . 2024-10-20 . rgd.mcw.edu.
  3. Mittelstaedt T, Schoch S . Structure and evolution of RIM-BP genes: identification of a novel family member . Gene . 403 . 1-2 . 70–79 . November 2007 . 17855024 . 10.1016/j.gene.2007.08.004 .
  4. Web site: RIMBP2 protein expression summary - The Human Protein Atlas . 2024-10-20 . www.proteinatlas.org.
  5. Butola T, Alvanos T, Hintze A, Koppensteiner P, Kleindienst D, Shigemoto R, Wichmann C, Moser T . 6 . RIM-Binding Protein 2 Organizes Ca2+ Channel Topography and Regulates Release Probability and Vesicle Replenishment at a Fast Central Synapse . The Journal of Neuroscience . 41 . 37 . 7742–7767 . September 2021 . 34353898 . 8445062 . 10.1523/JNEUROSCI.0586-21.2021 .
  6. Davis BA, Chen HY, Ye Z, Ostlund I, Tippani M, Das D, Sripathy SR, Wang Y, Martin JM, Shim G, Panchwagh NM, Moses RL, Farinelli F, Bohlen JF, Li M, Luikart BW, Jaffe AE, Maher BJ . 6 . TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons . Biological Psychiatry . 95 . 7 . 662–675 . April 2024 . 37573005 . 10858293 . 10.1016/j.biopsych.2023.07.021 .