This gene has 18 transcripts (splice variants), 186 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 9.3), stomach (RPKM 6.6) and 25 other tissues. 该基因编码核苷酸糖转运蛋白家族的一个成员。 编码的蛋白质是一种多通道膜蛋白。 它将 UDP-半乳糖从胞质溶胶转运到高尔基体小泡中，在那里它作为聚糖生成的糖基供体。 该基因的突变会导致 IIm 型糖基化 (CDG2M) 的先天性障碍。 已经为该基因发现了编码不同亚型的多个选 …

2024年12月25日 · SLC35A2 (Solute Carrier Family 35 Member A2) is a Protein Coding gene. Diseases associated with SLC35A2 include Congenital Disorder Of Glycosylation, Type Iim and Isolated Focal Cortical Dysplasia Type Ia. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Disorders of transmembrane transporters.

2021年9月1日 · To address this critical issue, we utilized a structure-guided mutagenesis strategy and assayed a series of SLC35A2 and SLC35A1 mutants using a rescue approach. Our results suggest that three pockets in the central cavity of each transporter provide substrate specificity.

2019年1月1日 · UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) transporters form glycosylation-related complexes with Mannoside Acetylglucosaminyltransferases (Mgats)

SLC35A2 deficiency reduces protein levels of core 1 beta-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc and affects their subcellular localization. Nucleotide sugar transporter SLC35A2 is involved in promoting hepatocellular carcinoma metastasis by …

Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CD …

2025年3月8日 · 通过免疫荧光双标记实验，证实了 SLC35A2 与髓鞘标记物 CNPase、高尔基体标记物 58k、高尔基体延伸部分标记物 TPPP 以及髓鞘形成相关的少突胶质细胞标记物 BCAS1 存在共定位现象。

2024年8月17日 · SLC35A2 deficiency reduces protein levels of core 1 β-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc and affects their subcellular localization. Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the <i>SLC35A2</i> Gene.

SLC35A2 is a key transmembrane protein that acts as an antiporter to transport uridine diphosphate galactose (UDP-galactose) into the Golgi apparatus. The process involves the exchange of UDP-galactose with UMP and exhibits versatility through exchange with …

Enables UDP-galactose transmembrane transporter activity. Acts upstream of or within UDP-galactose transmembrane transport. Located in Golgi membrane. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Human ortholog (s) of this gene implicated in congenital disorder of glycosylation type IIm.