PIK3CB Chromosome 3
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
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What This Gene Does
This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Phosphatidylinositol 3-kinase family
Locus Type
gene with protein product
Location
3q22.3
Ensembl
ENSG00000051382
Associated Conditions (1)
NK-cell enteropathy
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1577033077 | Health Risk | Likely pathogenic | NK-cell enteropathy, NK-cell enteropathy |