ⓘ ST3GAL5

                                     

ⓘ ST3GAL5

Lactosylceramide alpha-2.3-sialyltransferase is an enzyme that in humans is encoded by the ST3GAL5 gene.

Ganglioside GM3 is known to participate in induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a membrane type, a second protein, which catalyzes the formation of lactosylceramide billion m3, using as a substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized in the Golgi apparatus. Mutations in this gene have been associated with the syndrome Amish infantile epilepsy. Variants of transcripts encoding different isoforms have been found for this gene.

Mutations in this gene have been associated with a syndrome salt and pepper’: an autosomal recessive condition characterized by severe mental retardation, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and a change in skin pigmentation. doi: 10.1093 / HMG / ddt434

                                     
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