Literature summary for 3.1.6.1 extracted from

Nino, M.; Matos-Miranda, C.; Maeda, M.; Chen, L.; Allanson, J.; Armour, C.; Greene, C.; Kamaluddeen, M.; Rita, D.; Medne, L.; Zackai, E.; Mansour, S.; Superti-Furga, A.; Lewanda, A.; Bober, M.; Rosenbaum, K.; Braverman, N.
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata (2008), Am. J. Med. Genet. A, 146A, 997-1008.

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Cloned(Commentary)

Cloned (Comment)	Organism
expressed in COS-7 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G137A	the mutation is associated with X-linked recessive chondrodysplasia punctata	Homo sapiens
I40S	the mutation is associated with X-linked recessive chondrodysplasia punctata	Homo sapiens
P578S	the mutation is associated with X-linked recessive chondrodysplasia punctata	Homo sapiens
T409M	the mutation is associated with X-linked recessive chondrodysplasia punctata	Homo sapiens

Inhibitors

Inhibitors	Comment	Organism	Structure
warfarin	-	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4-methylumbelliferyl sulfate + H2O	-	Homo sapiens	4-methylumbelliferol + sulfate	-	?

Synonyms

Synonyms	Comment	Organism
ARSE	-	Homo sapiens
arylsulfatase E	-	Homo sapiens

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Release 2023.1 (January 2023)