Presku: | AAP54528 |
Size: | 100 ug |
Weight: | 56kDa |
Gene: | 410 |
Format: | Lyophilized powder |
Target: | ARSA hydrolyzes cerebroside sulfate. Defects in ARSA are a cause of leukodystrophy metachromatic (MLD).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. Multiple alternatively spliced transcript variants, one of which encodes a distinct protein, have been described for this gene. |
Alternative names: | MLD |