GMDS (gene)

GMDS, also known as GDP-mannose 4,6-dehydratase, is a gene that encodes an enzyme involved in the de novo synthesis of GDP-fucose. GDP-fucose is a sugar nucleotide crucial for various biological processes, including leukocyte trafficking, cell-cell interactions, and the formation of blood group antigens.

The GMDS enzyme catalyzes the two-step dehydration of GDP-mannose to form GDP-4-keto-6-deoxymannose. This intermediate is then converted to GDP-fucose by GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase (FX). Therefore, GMDS is essential for the production of GDP-fucose.

Mutations in the GMDS gene have been associated with carbohydrate-deficient glycoprotein syndrome (CDGS), specifically type IIe. CDGS are a group of inherited metabolic disorders characterized by abnormal glycosylation of proteins and lipids. Individuals with GMDS-related CDGS may exhibit a range of symptoms affecting multiple organ systems, including neurological deficits, developmental delays, and immune system dysfunction.

The GMDS gene is located on chromosome 6 in humans. Understanding the structure, function, and regulation of GMDS is important for comprehending the pathogenesis of CDGS and exploring potential therapeutic interventions. Further research is ongoing to elucidate the full spectrum of GMDS-related disorders and to develop targeted therapies to address the underlying metabolic defects.