Literature summary for 3.1.6.8 extracted from

Lugowska, A.; Wlodarski, P.; Ploski, R.; Mierzewska, H.; Dudzinska, M.; Matheisel, A.; Swietochowska, H.; Tylki-Szymanska, A.
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene (2009), Clin. Genet., 75, 57-64.

Search for more literature for 3.1.6.8

Application

Application	Comment	Organism
medicine	metachromatic leukodystrophy is caused by deficient activity of arylsulfatase A	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expressed in CHO cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
C493F	mutant shows 0.7% of wild type ARSA activity	Homo sapiens
G293C	mutant shows 0.5% of wild type ARSA activity	Homo sapiens
additional information	the frameshift mutations g.445_446dupG and g.2590_2591dupC are associated with metachromatic leukodystrophy and lead 0.3% or 10% of wild type ARSA activity, respectively	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
lysosome	-	Homo sapiens	5764	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P15289	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4-nitrocatechol sulfate + H2O	-	Homo sapiens	4-nitrocatechol + sulfate	-	?
cerebroside 3-sulfate + H2O	-	Homo sapiens	cerebroside + sulfate	-	?

Synonyms

Synonyms	Comment	Organism
ARSA	-	Homo sapiens
arylsulfatase A	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)