ARSA
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ARSA (HGNC:713) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
arylsulfatase A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
ASA
%HI
63.58(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.17(Read more about gnomAD LOEUF score)
Cytoband
22q13.33
Genomic Coordinates
GRCh37/hg19: chr22:51061182-51066580 NCBI Ensembl UCSC
GRCh38/hg38: chr22:50622754-50628152 NCBI Ensembl UCSC
MANE Select Transcript
NM_000487.6 ENST00000216124.10 (Read more about MANE Select)
Function
Hydrolyzes cerebroside sulfate. {ECO:0000269|PubMed:10751093, ECO:0000269|PubMed:24294900}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-31588
ClinGen Curation ID:
CCID:006692
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/05/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • metachromatic leukodystrophy, juvenile form Monarch
HI Evidence Comments:
Autosomal recessive mutations in ARSA result in metachromatic leukodystrophy.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)