ARSB arylsulfatase B
Gene ID: 411, updated on 10-Oct-2024Gene type: protein coding
Also known as: ASB; G4S; MPS6
- See all available tests in GTR for this gene
- Go to complete Gene record for ARSB
- Go to Variation Viewer for ARSB variants
Summary
Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of selenium concentrations. GeneReviews: Not available | |
| Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. GeneReviews: Not available | |
| Mucopolysaccharidosis type 6 | See labs |
| Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants. GeneReviews: Not available | |
| Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. GeneReviews: Not available |
Genomic context
- Location:
- 5q14.1
- Sequence:
- Chromosome: 5; NC_000005.10 (78777209..78985958, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARSB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ARSB database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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