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Literature summary for 2.4.1.261 extracted from

  • Besse, W.; Chang, A.; Luo, J.; Triffo, W.; Moore, B.; Gulati, A.; Hartzel, D.; Mane, S.; Torres, V.; Somlo, S.; Mirshahi, T.
    ALg9 mutation carriers develop kidney and liver cysts (2019), J. Am. Soc. Nephrol., 30, 2091-2102 .
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine inactivation of Alg9 results in impaired maturation and defective glycosylation of polycystin-1. Seven of eight (88%) cases selected have at least four kidney cysts, compared with none in matched controls Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9H6U8
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General Information

General Information Comment Organism
physiological function inactivation of Alg9 results in impaired maturation and defective glycosylation of polycystin-1 Homo sapiens