GLA 靶点信息

GLA 分子靶点信息概述

  • 分子名：GLA, galactosidase alpha
  • 基因家族：Galactosidases alpha
  • 别名：GALA

GLA 分子靶点综述

α-半乳糖苷酶A，又名GLA，是糖基水解酶27家族的一个成员。GLA可作为已确诊法布里病(FD)患者的长期酶替代疗法。GLA缺乏引发FD，这是一种罕见的X连锁的鞘脂类代谢障碍疾病，表现为糖脂沉积在许多组织中。FD是一种先天的鞘糖脂分解代谢异常疾病，患有该病的患者整个机体表现出神经酰胺三己糖苷(Gb3)和相关糖鞘脂类全身性沉积于血浆和细胞溶酶体中。男性下躯干的特征性皮肤病变(血管角质瘤)是医生对FD的临床识别。另外，患者可能出现眼睛沉淀物、发热和四肢烧灼痛。肾功能衰竭、高血压引起的心脏或大脑并发症或者其他血管疾病都会导致FD患者死亡。缺乏GLA导致糖鞘脂类沉积在血管中，进而导致多器官发生病变。除了微血管疾病，缺乏GLA还会导致早期大血管病变如中风和心肌梗死。

GLA, galactosidase alpha 分子靶点种属信息

人 Human小鼠 Mouse大鼠 Rat

人 Human GLA 分子靶点信息

  • 分子名：GLA, galactosidase alpha
  • 别称：
    • agalsidase alfa
    • alpha-D-galactosidase A
    • alpha-D-galactoside galactohydrolase 1
    • alpha-gal A
    • alpha-galactosidase A
    • GALA
    • galactosidase, alpha
    • galactosylgalactosylglucosylceramidase GLA
    • melibiase
  • 基因序列：NCBI_Gene: 2717
  • 蛋白序列：UniProtKB: P06280

人 Human GLA靶点分子功能（预测）

Enables hydrolase activity, hydrolyzing O-glycosyl compounds; protein homodimerization activity; and signaling receptor binding activity. Involved in glycosphingolipid catabolic process and oligosaccharide metabolic process. Located in Golgi apparatus; extracellular region; and lysosome. Implicated in Fabry disease.

小鼠 Mouse Gla 分子靶点信息

小鼠 Mouse Gla 靶点分子功能（预测）

Enables alpha-galactosidase activity. Involved in negative regulation of nitric oxide biosynthetic process and negative regulation of nitric-oxide synthase activity. Acts upstream of or within glycosylceramide catabolic process. Located in extracellular space and lysosome. Is expressed in several structures, including adrenal gland; alimentary system; brain; genitourinary system; and liver and biliary system. Used to study Fabry disease. Human ortholog(s) of this gene implicated in Fabry disease. Orthologous to human GLA (galactosidase alpha).

大鼠 Rat Gla 分子靶点信息

  • 分子名：Gla, galactosidase, alpha
  • 别称：
    • alpha-galactosidase A
    • galactosidase, alpha (mapped)
    • Gla_mapped
  • 基因序列：NCBI_Gene: 363494
  • 蛋白序列：UniProtKB: D3ZJF9

大鼠 Rat Gla 靶点分子功能（预测）

Enables alpha-galactosidase activity and galactoside binding activity. Predicted to be involved in several processes, including glycosylceramide catabolic process; negative regulation of nitric oxide biosynthetic process; and negative regulation of nitric-oxide synthase activity. Located in lysosome. Used to study Fabry disease and lysosomal storage disease. Human ortholog(s) of this gene implicated in Fabry disease. Orthologous to human GLA (galactosidase alpha).

GLA 分子产品列表

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