ARSG gene

arylsulfatase G

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

From UniProt:

Displays arylsulfatase activity at acidic pH with pseudosubstrates, such as p-nitrocatechol sulfate and also, but with lower activity, p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate.

From NCBI Gene:

  • USHER SYNDROME, TYPE IV

From UniProt:

Usher syndrome 4 (USH4): A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive. [MIM:618144]

Cytogenetic Location: 17q24.2, which is the long (q) arm of chromosome 17 at position 24.2

Molecular Location: base pairs 68,259,182 to 68,452,005 on chromosome 17 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 17q24.2, which is the long (q) arm of chromosome 17 at position 24.2