別 名: MLD
概 述:
|
Full name: |
arylsulfatase A |
|
Synonyms: |
MLD |
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Swissprot: |
P15289 |
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Gene Accession: |
BC014210 |
|
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
|
Expression system: |
Escherichia coli |
|
Tags: |
His tag C-Terminus, GST tag N-Terminus |
|
Background: |
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. |
