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ARYLSULFATASE F; ARSF

ARYLSULFATASE F; ARSF

HGNC Approved Gene Symbol: ARSFCytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:3,040,233-3,112,726 (from NCBI)▼ Cloning and ExpressionIn the co...

HGNC Approved Gene Symbol: ARSF

Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:3,040,233-3,112,726 (from NCBI)

▼ Cloning and Expression
In the course of positional cloning of the gene containing mutations causing chondrodysplasia punctata, Franco et al. (1995) found a cluster of 3 arylsulfatases within region Xp22.3: ARSD (300002); ARSE (300180), the site of the mutations in X-linked recessive chondrodysplasia punctata (302950); and ARSF. Their natural substrate was not determined.

Using the ARSD and ARSE genes, Puca et al. (1997) isolated genomic clones and cDNAs encoding ARSF. The ARSF cDNA encodes a 591-amino acid polypeptide. Expression of the cDNA showed that the ARSF gene product is an active arylsulfatase whose activity, unlike that of the ARSE gene product, is not inhibited by warfarin. Northern blot analysis and RT-PCR failed to detect ARSF expression.

▼ Gene Structure
Puca et al. (1997) determined that the ARSF gene contains 11 exons, including 2 designated 1A and 1B, and spans 50 to 60 kb.

▼ Mapping
The ARSF gene maps to the pseudoautosomal region of the X chromosome, Xp22.3 (Franco et al., 1995). The ARSC (see 301780), ARSD, ARSE, and ARSF genes share similarity in sequence, splice sites, and map location, suggesting that they are derived from recent gene duplication events (Puca et al., 1997).

Tags: XP22.33