Gene: SUMF1

Alternate names for this Gene: AAPA3037|FGE|UNQ3037

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p26.1

Description of this Gene: sulfatase modifying factor 1

Type of Gene: protein-coding

rs794185 in SUMF1 gene and Multiple Sclerosis PMID 20802204 2010 Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.

rs1057517363 in SUMF1 gene and Multiple Sulfatase Deficiency Disease PMID 15907468 2005 Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.

PMID 18509892 2008 Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.

PMID 21224894 2011 SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.

PMID 24339620 2013 Multiple sulfatase deficiency: A case series of four children.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 12757706 2003 The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

PMID 12757705 2003 Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.

PMID 15146462 2004 Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

PMID 18157819 2008 Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

PMID 25885655 2015 Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.

PMID 26825355 2016 A Patient With Atypical Multiple Sulfatase Deficiency.

PMID 25373814 2014 The identification of compound heterozygous pathogenic mutations in the SUMF1 gene c.836 C>T (p.A279V) and c.1045C>T (p.R349W) confirmed the diagnosis of MSD.

PMID 27344646 2016 The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?

PMID 17657823 2007 To correlate the nature of the residual sulfatase activities detected in MSD patients with residual FGE activity, four FGE mutants (i.e. p.S155P, p.R224W, p.R345C, p.R349W) found in homozygosis in MSD patients were analyzed.

PMID 27415407 2017 Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

PMID 16125993 2006 Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

rs9831663 in SUMF1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.