靶标:
ARSA
产品别名:
ASA; MLD; ARSA; arylsulfatase A; arylsulfatase A; arylsulfatase A; cerebroside-sulfatase; epididymis secretory sperm binding protein; 芳基硫酸酯酶A; 芳基硫酸酯酶A(ARSA); 芳香基硫酸酯酶1;
背景信息:
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010],