Jaeken's syndrome

'Jaeken's syndrome' can also refer to...


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An autosomal recessive disorder of glycosylation type Ia (carbohydrate deficient-glycoprotein syndrome Ia, CDGIa) caused by mutation in the gene encoding phosphomannomutase-2 (EC, 246 aa). This leads to deficiencies in the synthesis and processing of N-linked glycans or oligosaccharides on glycoproteins, seriously affecting a range of cellular activities. CDGIb is caused by mutation in the gene encoding mannosephosphate isomerase (EC, 423 aa), CDGIc by mutation in the gene encoding asparagine-linked glycosylation protein 6 (ALG6, EC 2.4.1.-, 507 aa).

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