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ARSL |
Gene Facts External Data Attribution
- HGNC Symbol
- ARSL (HGNC:719) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- arylsulfatase L
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CDPX, CDPX1, ARSE
- Alias symbols
- No aliases found
- %HI
- 89.33(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.59(Read more about gnomAD pLI score)
- LOEUF
- 0.49(Read more about gnomAD LOEUF score)
- Cytoband
- Xp22.33
- Genomic Coordinates
-
GRCh37/hg19: chrX:2852562-2886286 NCBI Ensembl UCSC GRCh38/hg38: chrX:2934521-2968245 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000047.3 ENST00000381134.9 (Read more about MANE Select)
- Function
- Exhibits arylsulfatase activity towards the artificial substrate 4-methylumbelliferyl sulfate (PubMed:7720070, PubMed:9497243). May be essential for the correct composition of cartilage and bone matrix during development (PubMed:7720070). Has no activity toward steroid sulfates (PubMed:7720070). {ECO:0000269|PubMed:7720070, ECO:0000269|PubMed:9497243}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-29351
ClinGen Curation ID:
CCID:006694
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000023.10)
(NC_000023.11)
