A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.

Article Details

Citation

Kafert S, Heinisch U, Zlotogora J, Gieselmann V

A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.

Hum Genet. 1995 Feb;95(2):201-4.

PubMed ID
7860068 [ View in PubMed
]
Abstract

Metachromatic leukodystrophy is a lysosomal storage disease caused by deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of an Ashkenazi Jewish patient suffering from the severe late infantile form of the disease revealed a point mutation in exon 2 causing proline 136 to be substituted by leucine. The patient was homozygous for this mutation. Studies on Ltk- cells stably expressing the mutant enzyme show that the mutation causes complete loss of enzyme activity and rapid degradation in an early biosynthetic compartment.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Arylsulfatase AP15289Details