Gene Symbol | PIK3R1 |
Entrez Gene ID | 5295 |
Full Name | phosphoinositide-3-kinase regulatory subunit 1 |
Synonyms | AGM7,GRB1,IMD36,p85,p85-ALPHA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]. |
Disorder MIM: | |
Disorder Html: | ?Agammaglobulinemia 7, autosomal recessive, 615214 (3); SHORT syndrome, 269880 (3); Immunodeficiency 36, 616005 (3) |