Literature summary for 2.4.1.258 extracted from

Himmelreich, N.; Dimitrov, B.; Geiger, V.; Zielonka, M.; Hutter, A.-M.; Beedgen, L.; H�llen, A.; Breuer, M.; Peters, V.; Thiemann, K.-C.; Hoffmann, G. F.; Sinning, I.; Dupre, T.; Vuillaumier-Barrot, S.; Barrey, C.; Denecke, J.; K�lfen, W.; D�ker, G.; Ganschow, R.; Lentze, M.J.; Moore, S.; Seta, N.; Ziegler, A.; Thiel, C.
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus (2019), Hum. Mutat., 40, 938-951 .

Application

Application	Comment	Organism
medicine	identification of an additional open-reading frame of 141 bp (AAGRP) in the coding region of ALG3 in a patient with congenital disorder of glycosylation. Expression of this hybrid protein is significantly increased due to the homozygous variant c.160_196del. Patient shows secondary microcephaly, significantly decreased head control and axial muscular hypotonia associated with increased limb stiffness. Frequent episodes of hyperextension are observed	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	Q92685	-	-

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Synonyms	Comment	Organism
Alg3	-	Homo sapiens

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Release 2023.1 (January 2023)