文章目录[隐藏]
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 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
- 分子名：Gla, galactosidase, alpha
- 别称：
- Ags
- alpha-galactosidase
- 基因序列：NCBI_Gene: 11605
- 蛋白序列：
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).
