rs2154177128
This variant is located in the ST3GAL3 gene.
▶ClinVar annotation
Developmental and epileptic encephalopathy
View on ClinVar →About ST3GAL3
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
View all ST3GAL3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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