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Gene Review:

ST3GAL5 - ST3 beta-galactoside alpha-2,3...

Homo sapiens

Synonyms: CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase, Ganglioside GM3 synthase, Lactosylceramide alpha-2,3-sialyltransferase, SATI, SIAT9, ...

Farukhi, F. et al., Kapitonov, D. et al., Chung, T.W. et al.

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Disease relevance of ST3GAL5

PURPOSE: To investigate the cause of vision loss in patients with ganglioside GM3 synthase deficiency, a newly described rare autosomal recessive infantile-onset symptomatic epilepsy syndrome associated with developmental stagnation and blindness [1].

High impact information on ST3GAL5

Molecular mechanism for transcriptional activation of ganglioside GM3 synthase and its function in differentiation of HL-60 cells [2].
One of the STs, which exhibited the highest homology to ST3 Gal III, showed activity toward lactosylceramide (LacCer) and was termed ST3 Gal V according to the suggested nomenclature [1] [3].

References

Etiology of vision loss in ganglioside GM3 synthase deficiency. Farukhi, F., Dakkouri, C., Wang, H., Wiztnitzer, M., Traboulsi, E.I. Ophthalmic Genet. (2006) [Pubmed]
Molecular mechanism for transcriptional activation of ganglioside GM3 synthase and its function in differentiation of HL-60 cells. Chung, T.W., Choi, H.J., Lee, Y.C., Kim, C.H. Glycobiology (2005) [Pubmed]
Combinatorial PCR approach to homology-based cloning: cloning and expression of mouse and human GM3-synthase. Kapitonov, D., Bieberich, E., Yu, R.K. Glycoconj. J. (1999) [Pubmed]

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