Primary Identifier | MGI:88077 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 11883 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable arylsulfatase activity and calcium ion binding activity. Acts upstream of or within binding activity of sperm to zona pellucida. Located in plasma membrane. Is expressed in brain and genitourinary system. Used to study metachromatic leukodystrophy. Human ortholog(s) of this gene implicated in metachromatic leukodystrophy. Orthologous to human ARSA (arylsulfatase A). PHENOTYPE: Homozygous mice exhibit impaired balance and spatial learning ability. Sulfatide accumulates in the white matter of the brain and a reduced myelin sheath thickness in the corpus callosum and optic nerves is seen. A low frequency of head tremor develops after 2 years of age. [provided by MGI curators] |