IGBP1 Chromosome X
Immunoglobulin binding protein 1
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What This Gene Does
The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Protein phosphatase 2 modulatory subunits
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000089289
Associated Conditions (1)
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2085078922 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2147562704 | Health Risk | Pathogenic | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome, Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |