SUMF1 : sulfatase modifying factor 1

Description

The SUMF1 gene encodes the sulfatases modifying factor 1, a crucial enzyme responsible for activating a family of sulfatase enzymes. These enzymes play vital roles in various metabolic pathways, including the breakdown of glycosaminoglycans, steroids, and other sulfated molecules. SUMF1 facilitates the activation of sulfatase enzymes by removing a formylglycine residue from their active site, enabling them to perform their catalytic functions. This intricate process ensures proper sulfatase activity, vital for maintaining cellular homeostasis and diverse biological processes.

Associated Diseases

• Multiple sulfatase deficiency (MSD): A rare, inherited disorder characterized by the accumulation of sulfated compounds due to the deficiency of multiple sulfatase enzymes. It results in a wide spectrum of clinical manifestations, including skeletal abnormalities, neurological impairments, and developmental delays.
• X-linked ichthyosis: A genetic skin disorder affecting males, resulting in dry, scaly skin. It arises from the deficiency of steroid sulfatase, an enzyme activated by SUMF1, involved in the metabolism of cholesterol sulfate.
• Metachromatic leukodystrophy (MLD): A lysosomal storage disorder caused by the deficiency of arylsulfatase A, a SUMF1-dependent enzyme involved in the breakdown of sulfatides. It leads to progressive neurological deterioration.

Did you know?

SUMF1 gene mutations can lead to a rare condition known as multiple sulfatase deficiency (MSD), causing a wide range of symptoms due to the dysfunction of multiple sulfatase enzymes.