Gene: ARSL

Alternate names for this Gene: ARSE|ASE|CDPX|CDPX1|CDPXR

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.33

Description of this Gene: arylsulfatase L

Type of Gene: protein-coding

rs12393627 in ARSL gene and Body Height PMID 21998595 2011 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

PMID 22021425 2012 Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).

rs80338711 in ARSL gene and Brachytelephalangic Chondrodysplasia Punctata PMID 12567415 2003 X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

PMID 7720070 1995 A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.

PMID 9409863 1997 X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

rs12393627 in ARSL gene and Height PMID 22021425 2012 Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).

PMID 21998595 2011 We found two novel height loci (Xp22-rs12393627, P = 3.4×10(-12) and 2p14-rs4315565, P = 1.2×10(-8)).