- Title
- Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense Single Nucleotide Variations to Protein Structure and Function:
- Creator
- Sanyanga, Taremekedzwa Allan, Tastan Bishop, Özlem
- Date
- 2020
- Type
- text
- Type
- article
- Identifier
- http://hdl.handle.net/10962/149670
- Identifier
- vital:38873
- Identifier
- https://doi.org/10.3390/ijms21082764
- Description
- Human carbonic anhydrase 8 (CA-VIII) is an acatalytic isoform of the α -CA family. Though the protein cannot hydrate CO2, CA-VIII is essential for calcium (Ca2+) homeostasis within the body, and achieves this by allosterically inhibiting the binding of inositol 1,4,5-triphosphate (IP3) to the IP3 receptor type 1 (ITPR1) protein. However, the mechanism of interaction of CA-VIII to ITPR1 is not well understood. In addition, functional defects to CA-VIII due to non-synonymous single nucleotide polymorphisms (nsSNVs) result in Ca2+ dysregulation and the development of the phenotypes such as cerebellar ataxia, mental retardation and disequilibrium syndrome 3 (CAMRQ3). The pathogenesis of CAMRQ3 is also not well understood. The structure and function of CA-VIII was characterised, and pathogenesis of CAMRQ3 investigated. Structural and functional characterisation of CA-VIII was conducted through SiteMap and CPORT to identify potential binding site residues.
- Format
- 20 pages, pdf
- Language
- English
- Relation
- International journal of molecular sciences, Sanyanga, T.A. and Tastan Bishop, Ö., 2020. Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense Single Nucleotide Variations to Protein Structure and Function. International journal of molecular sciences, 21(8), p.2764., International journal of molecular sciences volume 21 number 8 p.2764 April 2020 1422-0067
- Rights
- Publisher
- Rights
- Use of this resource is governed by the terms and conditions of the MDPI Open Access Statement (https://www.int-res.com/journals/terms-of-use/)
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Tastan Bishop, Ozlem (Prof)
RU Research Unit in Bioinformatics (RUBi)
SDG 03. Good Health and Well-Being
RU Department of Biochemistry, Microbiology and Bioinformatics
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