Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:ASA
arylsulfatase A (metachromatic leukodystrophy) |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:metachromatic_leukodystrophy
|
| gptkbp:discoveredBy |
Jean-Louis Mandel
|
| gptkbp:discoveredIn |
1980s
|
| gptkbp:encodes |
arylsulfatase A protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000100299
|
| gptkbp:expressedIn |
gptkb:lysosome
|
| gptkbp:fullName |
gptkb:arylsulfatase_A
|
| gptkbp:function |
hydrolyzes cerebroside sulfate
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:711
|
| https://www.w3.org/2000/01/rdf-schema#label |
ARSA gene
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:length |
8 exons
|
| gptkbp:locatedOnChromosome |
gptkb:22q13.33
|
| gptkbp:mutationAssociatedWith |
deficiency causes sulfatide accumulation
|
| gptkbp:OMIM |
607574
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Arsa
|
| gptkbp:RefSeq |
NM_000487
|
| gptkbp:UniProtID |
P15289
|
| gptkbp:bfsParent |
gptkb:arylsulfatase_A
gptkb:OTL-200 |
| gptkbp:bfsLayer |
8
|