IGBP1

Chr XXLR

immunoglobulin binding protein 1

Also known as: ALPHA-4, IBP1, MRXS28, alpha4

NCBI Gene: 3476 ENSG00000089289 UniProt: P78318 OMIM: 300139

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathiaMIM #300472

XLR

Clinical highlights

Gene-disease validity (ClinGen)

corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome · XLDisputedevidence questions this relationship

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

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Mechanism