- Title
- Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense Single Nucleotide Variations to Protein Structure and Function:
- Creator
- Sanyanga, Taremekedzwa Allan
- Creator
- Tastan Bishop, Özlem
- Date Issued
- 2020
- 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
- Format
- Language
- English
- Relation
- International journal of molecular sciences
- Relation
- 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.
- Relation
- 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/)
- Hits: 1137
- Visitors: 1298
- Downloads: 183
Collections
Tastan Bishop, Ozlem (Prof)
RU Research Unit in Bioinformatics (RUBi)
SDG 03. Good Health and Well-Being
RU Department of Biochemistry, Microbiology and Bioinformatics
| Thumbnail | File | Description | Size | Format | |||
|---|---|---|---|---|---|---|---|
| View Details Download | SOURCE1 | Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense.pdf | 6 MB | Adobe Acrobat PDF | View Details Download |