ARSL

Chr X

arylsulfatase L

Also known as: ARSE, ASE, CDPX, CDPX1, CDPXR

NCBI Gene: 415 ENSG00000157399 UniProt: P51690

Arylsulfatase E localizes to the Golgi apparatus and exhibits arylsulfatase activity essential for correct cartilage and bone matrix composition during development. Mutations cause X-linked recessive chondrodysplasia punctata, characterized by abnormalities in cartilage and bone development. The pathogenic mechanism involves loss of function leading to defective sulfatase activity required for proper skeletal matrix formation.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtChondrodysplasia punctata 1, X-linked recessive

Clinical highlights

Gene-disease validity (ClinGen)

X-linked chondrodysplasia punctata 1 · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.49

LOEUF

LOF

Mechanism· G2P

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GeneReview available — ARSL