- Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Genetic metabolic diseases > CDG-IIc


Monday 6 February 2006

- The disorder (CDG type IIc) is caused by mutation in the gene encoding GDP-fucose transporter-1 (FUCT1) (MIM.605881).

- Humans who lack one of the enzymes needed to express the carbohydrate ligands for E-selectin (SELE) and P-selectin (SELP) on neutrophils have similar problems, resulting in a syndrome called leukocyte adhesion deficiency type 2 (LAD2) (MIM.266265).