Gene Symbol | ADGRG1 |
Entrez Gene ID | 9289 |
Full Name | adhesion G protein-coupled receptor G1 |
Synonyms | BFPP,BPPR,GPR56,TM7LN4,TM7XN1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]. |
Disorder MIM: | |
Disorder Html: | Polymicrogyria, bilateral frontoparietal, 606854 (3); Polymicrogyria, bilateral perisylvian, 615752 (3) |