SUMF1, or Sulfatase Modifying Factor 1, encodes the enzyme responsible for the post-translational modification and activation of all sulfatases [2]. Sulfatases hydrolyze diverse sulfate esters, and their deficiency leads to human diseases marked by the accumulation of GAGs or sulfolipids [4]. SUMF1 is thus crucial for normal sulfatase function and has importance in various biological processes related to the metabolism of these substances. Mouse models have been valuable in studying SUMF1, such as genetically engineered mice with SUMF1 pathogenic variants [2].

In multiple sulfatase deficiency (MSD), a lysosomal storage disorder, mutations in SUMF1 lead to reduced sulfatase activities [2,4,5,7]. Mouse models with hypomorphic SUMF1 variants mimic attenuated forms of MSD, helping to understand the pathogenesis and explore treatments [2]. In COVID-19, the rs794185 polymorphism in SUMF1 was associated with disease severity in Chinese and European populations, and also with prothrombin activity [1]. In glioma, SUMF1 overexpression promotes tumor cell growth and migration, is correlated with the immune status and poor prognosis of patients, and inhibiting its expression deters cancer cell proliferation [3]. In Chronic Obstructive Pulmonary Disease (COPD), SUMF1 expression is affected, and certain SNPs in SUMF1 are associated with an increased risk of COPD [6].

In conclusion, SUMF1 is essential for sulfatase activation, playing a significant role in MSD, COVID-19, glioma, and COPD. Mouse models have been instrumental in revealing its functions in MSD, providing insights into disease mechanisms and potential treatment strategies. The gene's polymorphisms and expression changes in other diseases also highlight its importance in understanding disease pathogenesis and prognosis [1-3,6-7,9].