The gene ELOVL5 contains the information needed to build a protein whose full name is Elongation of very long chain fatty acids protein 5. As the name suggests, it has a role in the additions of carbons “blocks” needed to build long- and very long-chain fatty acid, which are important in functions such as skin barrier formation, liver activity and myelin (the sheet surrounding peripheral nervous system) maintenance.
As every gene, ELOVL5 is made of a sequence of hundreds of “nucleotides”: if one or more of them is altered, the function of the gene might be impaired as well. In SCA38, we know of two different sequence alterations (called “mutations”) that are present in patients with the disease.
However, we still not know how the mutations cause the disease itself.
Identifying one of these mutations is fundamental for the diagnosis: there are several tests available and the choice of the correct one should be made by the physician/geneticist and depends on the clinical presentation of the patients and his/her family history.
ELOVL5