| 58911 |
Q8R0F3 |
SUMF1_MOUSE |
Formylglycine-generating enzyme (FGE) (EC 1.8.3.7) (C-alpha-formylglycine-generating enzyme 1) (Sulfatase-modifying factor 1) |
DISRUPTION PHENOTYPE |
Mice display frequent early mortality, congenital growth retardation, skeletal abnormalities and neurological defects. Defects are caused by absence of all sulfatases activities. Massive glycosaminoglycans accumulation and cell vacuolization are observed in all tissues and are associated with systemic inflammation, apoptosis and neurodegeneration. {ECO:0000269|PubMed:17360554}. |