This website was constructed as a class project for Genetics 564, an undergraduate Genetics course at UW-Madison.
The Aldolase B Protein
The Aldolase B protein is encoded by the Aldolase B gene (ALDOB). Its enzymatic role is to cleave fructose-1,6-bisphosphate to yield cellular energy. Mutation to the coding sequence for this protein is the underlying cause of HFI; the mutation prevents the protein from folding properly and processing fructose-1,6-bisphosphate [1]. The most common mutation to this protein is the replacement of alanine with proline at position 149 [2]. While this may seem like a relatively simple alteration, changes to an amino acid sequence can drastically change the ability of a protein to form an enzymatic structure [3]. In the case of Aldolase B, each Aldolase B protein binds to three other Aldolase B proteins to form a tetramer, an enzyme made up of four subunits. Changes in the nucleotide sequence caused by DNA mutation ultimately prevent Aldolase B proteins from being able to form this tetramer, which prevents it from processing fructose-1,6-bisphophate.
References
1. NCBI. (2014). ALDOB aldolase B, fructose-bisphosphate [ Homo sapiens (human) ]. Retrieved March 6, 2014, from http://www.ncbi.nlm.nih.gov/gene/229
2. Genetics Home Reference. (2014). ALDOB. Retrieved February 3, 2014 from http://ghr.nlm.nih.gov/gene/ALDOB
3. Cooper GM. The Cell: A Molecular Approach. 2nd edition. Sunderland (MA): Sinauer Associates; 2000. Protein Folding and Processing. Electronic resource. Retrieved May 18, 2014, from http://www.ncbi.nlm.nih.gov/books/NBK9843/
2. Genetics Home Reference. (2014). ALDOB. Retrieved February 3, 2014 from http://ghr.nlm.nih.gov/gene/ALDOB
3. Cooper GM. The Cell: A Molecular Approach. 2nd edition. Sunderland (MA): Sinauer Associates; 2000. Protein Folding and Processing. Electronic resource. Retrieved May 18, 2014, from http://www.ncbi.nlm.nih.gov/books/NBK9843/