ARSL Gene (Arylsulfatase L)
Genetic and Functional Insights into ARSL, a Lysosomal Sulfatase Implicated in X-Linked Chondrodysplasia Punctata
Gene Information Card
| Symbol | ARSL |
|---|---|
| Full Name | Arylsulfatase L |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.33 |
| NCBI Gene ID | 415 ncbi.nlm.nih.gov/gene/415 |
| Ensembl ID | ENSG00000102384 |
| UniProt ID | P51690 |
| OMIM ID | 300180 |
| HGNC ID | 719 |
| Aliases | ARS, ARSC1, ARSC2, CDPX1, MGC117188, MGC117189 |
Description
The ARSL gene (arylsulfatase L) encodes a member of the sulfatase family, specifically arylsulfatase L, a lysosomal enzyme involved in the hydrolysis of sulfate esters. Mutations in ARSL cause X-linked chondrodysplasia punctata 1 (CDPX1), a disorder characterized by skeletal abnormalities, short stature, and punctate calcifications. The gene is located on the X chromosome and escapes X-inactivation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked chondrodysplasia punctata 1 (CDPX1) | Loss-of-function mutations in ARSL lead to deficiency of arylsulfatase L, impairing sulfate ester hydrolysis and disrupting skeletal development. | ClinVar, OMIM |
| Chondrodysplasia punctata, brachytelephalangic | Specific missense mutations in ARSL result in a milder form of CDPX1 with brachytelephalangy. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Lung | 6.2 | Low |
| Brain | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| HEK293 | 5.2 | Embryonic kidney cell line |
| K562 | 2.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.271C>T (p.Arg91*) | Nonsense | <0.01% | Loss of function, premature truncation |
| c.574G>A (p.Gly192Arg) | Missense | <0.01% | Reduced enzymatic activity |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Most ARSL mutations are loss-of-function, leading to arylsulfatase L deficiency and CDPX1.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • sulfatase activity (GO:0008484) | • lysosome (GO:0005764) |
| • sulfur compound metabolic process (GO:0006790) |
Pathways
• Sulfate assimilation (Reactome: R-HSA-174403)
• Lysosome (KEGG: hsa04142)
Protein Summary
Arylsulfatase L (UniProt P51690) is a 589-amino acid lysosomal sulfatase that catalyzes the hydrolysis of sulfate esters, such as arylsulfates. It is synthesized as a preproprotein and processed to a mature form. The enzyme requires post-translational modification to form a formylglycine residue essential for catalytic activity. Deficiency leads to accumulation of sulfated substrates and X-linked chondrodysplasia punctata.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARSL Knockout HEK293 Cell Line | EDJ-KQ4097 | Human | 415 | Details Get a Quote |
| ARSL Knockout A-549 Cell Line | EDJ-KQ26484 | Human | 415 | Details Get a Quote |
| ARSL Knockout HeLa Cell Line | EDJ-KQ52664 | Human | 415 | Details Get a Quote |
| ARSL Knockout HCT 116 Cell Line | EDJ-KQ69624 | Human | 415 | Details Get a Quote |
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