IGFBP4 Chromosome 17

Insulin like growth factor binding protein 4

1 variant 1 Health Risk

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What This Gene Does

This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Insulin like growth factor binding proteins

Locus Type

gene with protein product

Location

17q21.2

Ensembl

ENSG00000141753

Associated Conditions (1)

Abnormal brain morphology

Key Variants

RS563069739

Likely pathogenic

Abnormal brain morphology, Abnormal brain morphology

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS563069739	Health Risk	Likely pathogenic	Abnormal brain morphology, Abnormal brain morphology