What is Gene Ontology (GO)?
Gene Ontology is a publicly available bioinformatic tool which takes a specific gene of interest and describes its function with three GO terms. Gene Ontology then elaborates on how these functions are related to one another. The three GO terms are as follows, cellular component, molecular function, and biological process.
- Cellular Component: Describes where the gene product localizes to inside the cell.
- Molecular Function: Describes how the gene product functions within the cell.
- Biological Process: Describes a larger cellular process to which the gene product contributes to. This process usually consists of multiple different gene products with different molecular functions, and has more than one distinct step [1].
What are GO terms for GFAP?
All GO terms for GFAP were found utilizing UniProt [2].
Discussion
The Gene Ontology of GFAP came out as was expected, confirming its role as an glial intermediate filament protein which is involved in many biological processes within the brain and central nervous system. The variety of biological processes it is involved in within the brain brings further insight to why mutations in GFAP cause Alexander Disease, as it is likely that the overexpression of misfolded and mutated GFAP would cause the drastic neurodegenerative phenotype which is observed.