B3GALTL

The B3GALTL gene provides instructions for making an enzyme called beta-1,3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation allows proteins to perform a wider variety of functions. The B3Glc-T enzyme is responsible for one step in a glycosylation pathway that adds a sugar molecule called glucose to several different proteins. The B3GALTL gene is normally turned on in most cells of the body, which suggests that the B3Glc-T enzyme plays an important role in cellular function.

Peters plus syndrome - caused by mutations in the B3GALTL gene

At least four mutations that cause Peters plus syndrome have been identified in the B3GALTL gene. The most common mutation disrupts how genetic information is spliced together to produce the B3Glc-T enzyme. This mutation, called a splice-site mutation, replaces the DNA building block (nucleotide) guanine with the nucleotide adenine near an area of the gene called exon 8 (written as c.660+1G>A). This mutation results in the production of an abnormally short, nonfunctional B3Glc-T enzyme. It is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome.