Galactose mutarotase

Galactose mutarotase is an enzyme that plays a crucial role in the galactose metabolism pathway, specifically in the conversion of α-D-galactose to β-D-galactose. This enzyme is encoded by the GALM gene in humans.

Function

Galactose mutarotase catalyzes the conversion of α-D-galactose to β-D-galactose, a critical step in the Leloir pathway, the primary pathway for galactose metabolism. This conversion is necessary for the subsequent steps in the pathway, which ultimately convert galactose to glucose, a form of sugar that the body can readily use for energy.

Structure

The structure of galactose mutarotase is complex, consisting of multiple subunits. Each subunit contains a binding site for the galactose molecule. The enzyme's structure allows it to bind to the galactose molecule and catalyze the conversion process.

Clinical significance

Deficiencies in galactose mutarotase can lead to galactosemia, a rare genetic disorder characterized by the body's inability to properly metabolize galactose. This can lead to a buildup of galactose in the blood, causing a range of symptoms including liver damage, cataracts, and developmental delays.

See also

• Galactosemia
• Leloir pathway
• GALM gene