LongevityMap Gene
Gene details
- HGNC symbol
- SUMF1
- Aliases
- FGE; UNQ3037; AAPA3037
- Common name
- sulfatase modifying factor 1
- Description
- 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]
- Cytogenetic Location
- 3p26.1
- UCSC Genome Browser
- View 3p26.1 on the UCSC genome browser
- OMIM
- 607939
- Ensembl
- ENSG00000144455
- UniProt/Swiss-Prot
- SUMF1_HUMAN
- Entrez Gene
- 285362
- UniGene
- 350475
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (2)
Significant/Non-significant: 1/1
Study 1
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs12634249
- Reference
Study 2
- Longevity Association
- Non-significant
- Population
- Italian
- Study Design
- Genome-wide association study on 410 long-living individuals (age range, 90–109 years) and 553 young control individuals (age range, 18–48 years) using 318,237 SNPs. An independent population with 116 long-lived individuals and 160 controls was used for replication purposes.
- Conclusions
- A total of 67 SNPs were identified with an indication of potentially being associated with longevity (p < 1 × 10−4), though 66 were not further validated
- Indentifier
- rs964403
- Reference