SQRDL
Unveiling the SQRDl Gene: A Comprehensive Exploration
Description
The SQRDl gene, short for Sulfotransferase Family 1E Member 1, resides on chromosome 11p15.5. It encodes an enzyme known as heparan sulfate 2-sulfotransferase, which plays a crucial role in the synthesis of heparan sulfate proteoglycans (HSPGs). HSPGs are essential components of the extracellular matrix, influencing cell growth, differentiation, and signaling pathways.
Associated Diseases
Mutations in the SQRDl gene have been linked to several rare genetic disorders:
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Multiple Sulfatase Deficiency (MSD): A life-threatening condition characterized by the accumulation of glycosaminoglycans (GAGs) due to a deficiency of multiple sulfatases, including heparan sulfate 2-sulfotransferase.
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Corneal Dystrophy: A condition that affects the cornea, the transparent outer layer of the eye, causing clouding and vision impairment.
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Leukoencephalopathy with Vanishing White Matter (VWML): A rare neurological disorder characterized by progressive degeneration of the brain's white matter.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide is estimated to be affected by MSD, a severe manifestation of SQRDl gene mutations.
