ARSI Chromosome 5
Arylsulfatase family member I
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What This Gene Does
This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000183876
Associated Conditions (2)
Spastic paraplegia
ARSI-related disorder
Key Variants
RS143451969
Conflicting classifications of pathogenicity
Spastic paraplegia, ARSI-related disorder, Spastic paraplegia
Health Risk
RS143734494
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS144405126
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS200384227
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143451969 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, ARSI-related disorder, Spastic paraplegia |
| RS143734494 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS144405126 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS200384227 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |