Protein-coding gene in the species Homo sapiens
Lactosylceramide alpha-2,3-sialyltransferase is an enzyme that in humans is encoded by the ST3GAL5 gene .[ 5] [ 6]
Ganglioside GM3 is known to participate in the 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 type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus . Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene.[ 6]
Mutations in this gene have also been associated to ‘Salt & Pepper’ syndrome : an autosomal recessive condition characterized by severe intellectual disability , epilepsy , scoliosis , choreoathetosis , dysmorphic facial features and altered dermal pigmentation . (doi: 10.1093/hmg/ddt434)
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