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Calcium binding protein 2

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Protein found in humans


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.

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

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. 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.

Moreover, The CaBP2 protein is highly expressed in the cochlea. 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.

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.

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.; Palczewski, Krzysztof (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. PMC 1364469. PMID 10625670.
  2. 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. PMC 3284769. PMID 22375103.
  3. 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.
  4. 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. PMC 5083949. PMID 27822497.
  5. 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. PMC 6954825. PMID 29661613.
  6. Schrauwen, Isabelle; Helfmann, Sarah; Inagaki, Akira; Predoehl, Friederike; Tabatabaiefar, Mohammad Amin; Picher, Maria Magdalena; Sommen, Manou; Zazo Seco, Celia; Oostrik, Jaap; Kremer, Hannie; Dheedene, Annelies; Claes, Charlotte; Fransen, Erik; Chaleshtori, Morteza Hashemzadeh; Coucke, Paul (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. PMC 3484643. PMID 22981119.
  7. 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. PMC 8417311. PMID 34489639.
  8. 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". Molecular Genetics & Genomic Medicine. 9 (4): e1639. doi:10.1002/mgg3.1639. ISSN 2324-9269. PMC 8123739. PMID 33666369.
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