ARSE gene

arylsulfatase E (chondrodysplasia punctata 1)

The ARSE gene provides instructions for making an enzyme called arylsulfatase E. This enzyme is part of a group known as sulfatases, which are enzymes that help process molecules that contain chemical groups known as sulfates. Sulfatases play important roles in cartilage and bone development.

Within cells, arylsulfatase E is located in the Golgi apparatus, a structure that modifies newly produced enzymes and other proteins. The function of this enzyme is unknown, although researchers believe it participates in a chemical pathway involving vitamin K. Evidence suggests that vitamin K normally plays a role in bone growth and maintenance of bone density.

Genetic changes involving the ARSE gene are responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage development that occurs almost exclusively in males. Between 60 and 75 percent of males with the characteristic features of this condition have a mutation within the ARSE gene. At least 18 mutations have been found in affected individuals; these genetic changes reduce or eliminate the function of arylsulfatase E. Another 25 percent of affected males have a small deletion of genetic material from the region of the X chromosome that contains the ARSE gene. These individuals are missing the entire gene, so their cells produce no functional arylsulfatase E.

It is unclear how a shortage of arylsulfatase E disrupts the development of bones and cartilage and leads to the characteristic features of X-linked chondrodysplasia punctata 1.

Cytogenetic Location: Xp22.3, which is the short (p) arm of the X chromosome at position 22.3

Molecular Location: base pairs 2,934,632 to 2,968,310 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp22.3, which is the short (p) arm of the X chromosome at position 22.3
  • ARSE_HUMAN
  • arylsulfatase E
  • CDPX
  • CDPX1
  • CDPXR
  • MGC163310