IGFBPL1

Chr 9

insulin like growth factor binding protein like 1

Also known as: IGFBP-RP4, IGFBPRP4, bA113O24.1

NCBI Gene: 347252 ENSG00000137142 UniProt: Q8WX77

The protein binds insulin-like growth factors (IGFs) to regulate their half-life and modulate their growth-promoting effects by altering IGF interactions with cell surface receptors. Mutations cause autosomal recessive intellectual developmental disorder with cardiac arrhythmia. This gene shows minimal constraint against loss-of-function variants (pLI 0.00004), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Predicted to enable receptor ligand activity. Involved in cellular response to tumor cell. Located in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.64

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429