symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult.
Arylsulfatase A activity is defective in multiple sulfatase deficiency (MSD) [MIM:272200]. A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translatio
nal modification and activation. It combines features of individual sulfatase deficiencies such as me
tachromatic leukodystrophy, mucopolysaccharidosis, cho
ndrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Note=Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translatio
nal modification of ARSA at residue Cys-69 that is not co
nverted to 3-oxoalanine.
Similarity : Belo
ngs to the sulfatase family.
Databa
se l
inks : UniProtKB/Swiss-Prot: P15289.3
ArsA蛋白是存在于微生物细胞膜上的一种亚砷酸根阴离子泵的水溶性部分。在亚砷酸根存在的情况下。ArsA具有ATP酶活力。它水解ATP,发生构象变化.芳基硫酯酶A(ArylsulfataseA, ARSA)的缺陷,使溶酶体内脑硫酯水解受阻,沉积于神经系统的白质、周围神经系统及其它内脏组织,导致异染性脑白质营养不良(me
tachromatic Leukodystrophy,MLD),他是一种较常见的脑白质营养不良,也是一种常见的溶酶体病,为常染色体隐性遗传。
英文名称 Anti-ATEXPA10
中文名称 植物延长蛋白(拟南芥)
猪去氧胆酸83-49-8售后服务别 名 ARABIDOPSIS THALIANA EXPANSIN A 10.
浓 度 1mg/1ml
规 格 1ml/1mg
抗体来源 Rabbit
克隆类型 polyclonal