Gene: ST8SIA5

Alternate names for this Gene: SIAT8-E|SIAT8E|ST8SiaV

Gene Summary: The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.1

Description of this Gene: ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5

Type of Gene: protein-coding

rs8093234 in ST8SIA5 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs8093234 in ST8SIA5 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.