Gene: LOC100130207

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs6801789 in LOC100130207;SUMF1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.