Biology:Calcium binding protein 2

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens


Calcium binding protein 2, also known as CaBP2, is a protein that in humans is encoded by the CABP2 gene.

The CABP2 gene comprises 6 exons, spanning approximately 5 kb, and is situated on chromosome 11q13.1.[1]

CaBP2 contain a consensus sequence for N-terminal myristoylation, akin to members of the recoverin subfamily, and undergoes fatty acid acylation in vitro.[2]

Function and clinical significance

CaBP2 involves in calcium signaling and regulation. Specifically, CaBP2 is known for its ability to bind calcium ions, acting as a calcium sensor within cells. [3] This interaction with calcium plays a crucial role in various cellular processes, including neurotransmitter release in neurons and modulation of ion channels. CaBP2 is found in the retina and plays a significant role in visual signal processing. It interacts with other proteins, including those involved in the phototransduction cascade, contributing to the regulation of calcium levels in response to light stimuli. [4][5]

Moreover, The CaBP2 protein is highly expressed in the cochlea.[6] Non-syndromic autosomal recessive hearing impairment DFNB93, caused by defects in the CABP2 gene. Genetic defects in CABP2 may result in moderate to severe sensorineural hearing impairment.[7][8]

As of 2021, CaBP2-related non-syndromic hearing impairment has been reported in only a few families worldwide, including those in Iran, Turkey, Pakistan, Italy, and Denmark.[9]

References

  1. ↑ Haeseleer, Françoise; Sokal, Izabela; Verlinde, Christophe L.M.J.; Erdjument-Bromage, Hediye; Tempst, Paul; Pronin, Alexey N.; Benovic, Jeffrey L.; Fariss, Robert N. et al. (2000). "Five Members of a Novel Ca2+-binding Protein (CABP) Subfamily with Similarity to Calmodulin" (in en). Journal of Biological Chemistry 275 (2): 1247–1260. doi:10.1074/jbc.275.2.1247. PMID 10625670. 
  2. ↑ Haeseleer, Françoise; Sokal, Izabela; Verlinde, Christophe L.M.J.; Erdjument-Bromage, Hediye; Tempst, Paul; Pronin, Alexey N.; Benovic, Jeffrey L.; Fariss, Robert N. et al. (2000). "Five Members of a Novel Ca2+-binding Protein (CABP) Subfamily with Similarity to Calmodulin". Journal of Biological Chemistry 275 (2): 1247–1260. doi:10.1074/jbc.275.2.1247. ISSN 0021-9258. PMID 10625670. 
  3. ↑ Haynes, Lee P.; McCue, Hannah V.; Burgoyne, Robert D. (2012). "Evolution and functional diversity of the Calcium Binding Proteins (CaBPs)". Frontiers in Molecular Neuroscience 5: 9. doi:10.3389/fnmol.2012.00009. ISSN 1662-5099. PMID 22375103. 
  4. ↑ Williams, R.J.P. (2000). "A survey of the Sixth European Symposium on Calcium-binding Proteins". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1498 (2–3): 82–83. doi:10.1016/s0167-4889(00)00116-6. ISSN 0167-4889. PMID 11108951. 
  5. ↑ Sinha, Raunak; Lee, Amy; Rieke, Fred; Haeseleer, Françoise (2016). "Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses". eNeuro 3 (5): ENEURO.0099–16.2016. doi:10.1523/eneuro.0099-16.2016. ISSN 2373-2822. PMID 27822497. 
  6. ↑ Yang, Tian; Hu, Ning; Pangršič, Tina; Green, Steven; Hansen, Marlan; Lee, Amy (2018). "Functions of CaBP1 and CaBP2 in the peripheral auditory system". Hearing Research 364: 48–58. doi:10.1016/j.heares.2018.04.001. ISSN 0378-5955. PMID 29661613. 
  7. ↑ Schrauwen, Isabelle; Helfmann, Sarah; Inagaki, Akira; Predoehl, Friederike; Tabatabaiefar, Mohammad Amin; Picher, Maria Magdalena; Sommen, Manou; Zazo Seco, Celia et al. (2012). "A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment". The American Journal of Human Genetics 91 (4): 636–645. doi:10.1016/j.ajhg.2012.08.018. ISSN 0002-9297. PMID 22981119. 
  8. ↑ Oestreicher, David; Picher, Maria Magdalena; Rankovic, Vladan; Moser, Tobias; Pangrsic, Tina (2021-08-19). "Cabp2-Gene Therapy Restores Inner Hair Cell Calcium Currents and Improves Hearing in a DFNB93 Mouse Model". Frontiers in Molecular Neuroscience 14. doi:10.3389/fnmol.2021.689415. ISSN 1662-5099. PMID 34489639. 
  9. ↑ Sheyanth, Inger Norlyk; Højland, Allan Thomas; Okkels, Henrik; Lolas, Ihab; Thorup, Christian; Petersen, Michael Bjørn (2021). "First reported CABP2 ‐related non‐syndromic hearing loss in Northern Europe" (in en). Molecular Genetics & Genomic Medicine 9 (4): e1639. doi:10.1002/mgg3.1639. ISSN 2324-9269. PMID 33666369. 



Retrieved from "https://handwiki.org/wiki/index.php?title=Biology:Calcium_binding_protein_2&oldid=3610781"