ARSL Chromosome X
Arylsulfatase L
Upload your DNA to see your personal genotypes for variants in ARSL.
What This Gene Does
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
Xp22.33
Ensembl
ENSG00000157399
Associated Conditions (15)
Chondrodysplasia punctata
brachytelephalangic
autosomal
X-linked chondrodysplasia punctata 1
Inborn genetic diseases
Connective tissue disorder
Cervical cancer
Uveal melanoma
Thymoma
Uterine corpus endometrial carcinoma
Colon adenocarcinoma
ARSL-related disorder
Coffin-Siris syndrome 1
See cases
Nonpapillary renal cell carcinoma
Key Variants
RS1178912922
Conflicting classifications of pathogenicity
Chondrodysplasia punctata, brachytelephalangic, autosomal
Health Risk
RS139875495
Conflicting classifications of pathogenicity
Chondrodysplasia punctata, brachytelephalangic, autosomal
Health Risk
RS140499958
Conflicting classifications of pathogenicity
Chondrodysplasia punctata, brachytelephalangic, autosomal
Health Risk
RS141210068
Conflicting classifications of pathogenicity
Chondrodysplasia punctata, brachytelephalangic, autosomal
Health Risk
RS142375403
Conflicting classifications of pathogenicity
X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata, brachytelephalangic
Health Risk
RS144630754
Conflicting classifications of pathogenicity
Chondrodysplasia punctata, brachytelephalangic, autosomal
Health Risk
RS145946864
Conflicting classifications of pathogenicity
X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
Health Risk
RS199757831
Conflicting classifications of pathogenicity
Chondrodysplasia punctata, brachytelephalangic, autosomal
Health Risk
RS200062390
Conflicting classifications of pathogenicity
Connective tissue disorder, Chondrodysplasia punctata, brachytelephalangic
Health Risk
RS201424543
Conflicting classifications of pathogenicity
X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata, brachytelephalangic
Health Risk
RS372359634
Conflicting classifications of pathogenicity
Chondrodysplasia punctata, brachytelephalangic, autosomal
Health Risk
RS372935423
Conflicting classifications of pathogenicity
Chondrodysplasia punctata, brachytelephalangic, autosomal
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1178912922 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS139875495 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS140499958 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS141210068 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS142375403 | Health Risk | Conflicting classifications of pathogenicity | X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata, brachytelephalangic |
| RS144630754 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS145946864 | Health Risk | Conflicting classifications of pathogenicity | X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1 |
| RS199757831 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS200062390 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Chondrodysplasia punctata, brachytelephalangic |
| RS201424543 | Health Risk | Conflicting classifications of pathogenicity | X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata, brachytelephalangic |
| RS372359634 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS372935423 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS376111412 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS751548925 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS753971115 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Chondrodysplasia punctata, brachytelephalangic |
| RS754500316 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS755373707 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Chondrodysplasia punctata, brachytelephalangic |
| RS758398497 | Health Risk | Conflicting classifications of pathogenicity | X-linked chondrodysplasia punctata 1, Inborn genetic diseases, Chondrodysplasia punctata |
| RS759305139 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS759330790 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Chondrodysplasia punctata, brachytelephalangic |
| RS761977883 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS762393900 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS762627146 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS773935389 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS779527848 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS80338711 | Health Risk | Conflicting classifications of pathogenicity | X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata |
| RS80338714 | Health Risk | Conflicting classifications of pathogenicity | X-linked chondrodysplasia punctata 1, See cases, Chondrodysplasia punctata |
| RS1085307895 | Health Risk | Likely pathogenic | — |
| RS122460153 | Health Risk | Likely pathogenic | X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1 |
| RS1272438892 | Health Risk | Likely pathogenic | X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1 |
| RS1341359606 | Health Risk | Likely pathogenic | — |
| RS143383382 | Health Risk | Likely pathogenic | — |
| RS1555909466 | Health Risk | Likely pathogenic | — |
| RS2147378714 | Health Risk | Likely pathogenic | — |
| RS2147394157 | Health Risk | Likely pathogenic | X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata, brachytelephalangic |
| RS2147401174 | Health Risk | Likely pathogenic | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS2518346073 | Health Risk | Likely pathogenic | X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1 |
| RS2518369116 | Health Risk | Likely pathogenic | X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1 |
| RS2518385575 | Health Risk | Likely pathogenic | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS372316277 | Health Risk | Likely pathogenic | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS754885040 | Health Risk | Likely pathogenic | — |
| RS80338710 | Health Risk | Likely pathogenic | X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1 |
| RS1131691809 | Health Risk | Pathogenic | — |
| RS122460154 | Health Risk | Pathogenic | X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1 |
| RS122460155 | Health Risk | Pathogenic | X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1 |
| RS1335931206 | Health Risk | Pathogenic | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS1555910687 | Health Risk | Pathogenic | — |
| RS2089231699 | Health Risk | Pathogenic | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS2147401694 | Health Risk | Pathogenic | Chondrodysplasia punctata, brachytelephalangic, autosomal |
| RS2518334157 | Health Risk | Pathogenic | — |