Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | ARSA | contributors: mct/npt - updated : 11-06-2010 |
HGNC name | arylsulfatase A |
HGNC id | 713 |
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Corresponding disease |
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Location | 22q13.33 Physical location : 51.063.449 - 51.066.607 | ||
Synonym name | cerebroside-sulfatase | ||
EC.number | 3.1.6.8 |
DNA |
TYPE | functioning gene |
STRUCTURE | 3.16 kb 9 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | confirmed |
Map | cen - D22S311 - D22S446 - D22S315 - D22S275 - D22S683 -D22S5270 - D22S274 - D22S526 - ARSA - qter |
Authors | Brennan (00) |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| |
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HOMOLOGY |
interspecies | ortholog to murine Arsa |
Homologene |
FAMILY |
CATEGORY | enzyme |
basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
cell & other |
REGULATION |
Other | targeted to the lysosome by M6P receptor mediated pathway |
ASSOCIATED DISORDERS |
corresponding disease(s) | LDM |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
| AAV5(adeno-associated virus-mediated gene transfer 5) -mediated brain delivery of ARSA is a potentially efficacious therapeutic strategy for MLD patients, especially for those with rapidly progressive form of the disease |
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ANIMAL & CELL MODELS |