ANGPTL7

Chr 1

angiopoietin like 7

Also known as: AngX, CDT6, dJ647M16.1

NCBI Gene: 10218 ENSG00000171819 UniProt: O43827 OMIM: 618517

ANGPTL7 encodes a protein that regulates extracellular matrix organization and maintains corneal transparency by inhibiting blood vessel formation in the cornea. Mutations cause primary open-angle glaucoma, which can present in childhood, affecting intraocular pressure regulation due to impaired aqueous humor outflow through the trabecular meshwork. The gene shows very low constraint against loss-of-function variants, and inheritance follows an autosomal dominant pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Involved in negative regulation of vasculature development involved in avascular cornea development in camera-type eye and regulation of extracellular matrix organization. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.75

LOEUF

Mechanism· predicted