Literature summary for 2.4.1.261 extracted from

Tham, E.; Eklund, E.; Hammarsjoe, A.; Bengtson, P.; Geiberger, S.; Lagerstedt-Robinson, K.; Malmgren, H.; Nilsson, D.; Grigelionis, G.; Conner, P.; Lindgren, P.; Lindstrand, A.; Wedell, A.; Albage, M.; Zielinska, K.; Nordgren, A.; Papadogiannakis, N.; Nishimura, G.; Grigelioniene, G.
A novel phenotype in N-glycosylation disorders Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9 (2016), Eur. J. Hum. Genet., 24, 198-207 .

Application

Application	Comment	Organism
medicine	ALG9 homozygous splice variant NM_024740.2: c.1173+2T4A causes skipping of exon 10, leading to shorter RNA and resulting in an increase in monoglycosylated transferrin. Patients show a lethal skeletal dysplasia with visceral malformations as the most severe phenotype, i.e. Gillessen-Kaesbach-Nishimura skeletal dysplasia	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9H6U8	-	-

Synonyms	Comment	Organism
ALG9	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)