A gene is an instruction to assemble proteins, which are structures essential for the formation and proper functioning of our body. The ERI1 gene gives instructions for the formation of the ERI1 protein. Bi-allelic* mutations in the ERI1 gene can affect the ERI1 protein. This protein is believed to play several roles in gene reading, gene packaging, and in the production of other proteins. ERI1 mutations can be diagnosed by genetic testing, usually performed on a blood sample.
*Humans have two set of genes, called chromosomes. Bi-allelic mutations refer to cases where a certain gene (for example, ERI1) is mutated in both chromosomes. It can be the same mutation (known as homozygous mutations) or two different ones, but two mutations affect the same gene, each in one chromosome.
ERI1 Hoxha-Aliu syndrome