Gene Symbol | MAGI2 |
Entrez Gene ID | 9863 |
Full Name | membrane associated guanylate kinase, WW and PDZ domain containing 2 |
Synonyms | ACVRIP1,AIP-1,AIP1,ARIP1,MAGI-2,SSCAM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Nephrotic syndrome 15, 617609 (3) |