SUMF1 sulfatase modifying factor 1
Gene ID: 285362, updated on 17-Aug-2024Gene type: protein coding
Also known as: FGE; UNQ3037; AAPA3037
- See all available tests in GTR for this gene
- Go to complete Gene record for SUMF1
- Go to Variation Viewer for SUMF1 variants
Summary
This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis. GeneReviews: Not available | |
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available | |
| Multiple sulfatase deficiency | See labs |
Genomic context
- Location:
- 3p26.1
- Sequence:
- Chromosome: 3; NC_000003.12 (4034486..4467269, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SUMF1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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
- SUMF1 database
- Variation ViewerRelated Variants
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