IGFBP7 Chromosome 4
Insulin like growth factor binding protein 7
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What This Gene Does
This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
I-set domain containing
Locus Type
gene with protein product
Location
4q12
Ensembl
ENSG00000163453
Associated Conditions (2)
Familial retinal arterial macroaneurysm
Retinal arterial macroaneurysm with supravascular pulmonic stenosis
Key Variants
RS764942670
Pathogenic
Familial retinal arterial macroaneurysm, Familial retinal arterial macroaneurysm
Health Risk
RS866994863
Pathogenic/Likely pathogenic
Retinal arterial macroaneurysm with supravascular pulmonic stenosis, Familial retinal arterial macroaneurysm, Retinal arterial macroaneurysm with supravascular pulmonic stenosis
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS764942670 | Health Risk | Pathogenic | Familial retinal arterial macroaneurysm, Familial retinal arterial macroaneurysm |
| RS866994863 | Health Risk | Pathogenic/Likely pathogenic | Retinal arterial macroaneurysm with supravascular pulmonic stenosis, Familial retinal arterial macroaneurysm, Retinal arterial macroaneurysm with supravascular pulmonic stenosis |