Literature summary for 3.1.6.8 extracted from

Cesani, M.; Capotondo, A.; Plati, T.; Sergi, L.S.; Fumagalli, F.; Roncarolo, M.G.; Naldini, L.; Comi, G.; Sessa, M.; Biffi, A.
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy (2009), Hum. Mutat., 30, E936-E945.

Cloned(Commentary)

Cloned (Comment)	Organism
the ARSA gene is a small gene located on chromosome 22q13 that spans 8 exons and encodes a 507-aminoacid peptide, it is transcribed into three mRNA species, a major one of 2.1 kb and two less abundant species of 3.7 and 4.8 kb. DNA and amino acid sequence determination and analysis of natural mutants. Recombinant expression in HeLa cells using lentiviral vectors, containing mutated ARSA alleles, the vectors stably integrate into the host genome. expression of mutated alleles in murine ARSA-/- fibroblasts	Homo sapiens

Cloned (Comment)

Organism

the ARSA gene is a small gene located on chromosome 22q13 that spans 8 exons and encodes a 507-aminoacid peptide, it is transcribed into three mRNA species, a major one of 2.1 kb and two less abundant species of 3.7 and 4.8 kb. DNA and amino acid sequence determination and analysis of natural mutants. Recombinant expression in HeLa cells using lentiviral vectors, containing mutated ARSA alleles, the vectors stably integrate into the host genome. expression of mutated alleles in murine ARSA-/- fibroblasts

Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A212P	naturally occuring ARSA polymorphism, causes a severe peripheral neuropathy phenotype	Homo sapiens
C168stop	naturally occuring ARSA polymorphism, causes a severe peripheral neuropathy phenotype	Homo sapiens
D407fs	naturally occuring ARSA polymorphism, causes a severe peripheral neuropathy phenotype	Homo sapiens
E307K	naturally occuring ARSA polymorphism, causes a mild peripheral neuropathy phenotype	Homo sapiens
H138D	naturally occuring ARSA polymorphism, causes a mild peripheral neuropathy phenotype	Homo sapiens
L52P	naturally occuring ARSA polymorphism, causes a severe peripheral neuropathy phenotype	Homo sapiens
additional information	naturally occuring ARSA polymorphisms, overview	Homo sapiens
S406G	naturally occuring ARSA polymorphism, causes a severe peripheral neuropathy phenotype	Homo sapiens
T304M	naturally occuring ARSA polymorphism, causes a severe peripheral neuropathy phenotype	Homo sapiens

Localization

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P15289	-	-

Synonyms

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

General Information

General Information	Comment	Organism
malfunction	metachromatic leukodystrophy, MLD, is a rare inherited lysosomal storage disorder caused by the deficiency of arylsulfatase A, ARSA	Homo sapiens
physiological function	ARSA is involved in the catabolism of membrane sulfatides into galactosylceramide	Homo sapiens