ANTXR1

Chr 2ADAR

ANTXR cell adhesion molecule 1

Also known as: ATR, GAPO, TEM8

NCBI Gene: 84168 ENSG00000169604 UniProt: Q9H6X2 OMIM: 606410

The protein functions as a cell adhesion receptor that mediates attachment to collagen and gelatin, reorganizes the actin cytoskeleton, and plays important roles in extracellular matrix homeostasis and angiogenesis. Mutations cause GAPO syndrome and may contribute to susceptibility to infantile capillary hemangiomas, with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.3), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismAD/ARLOEUF 0.302 OMIM phenotypes

Clinical Summary— ANTXR1

🧬

Gene-Disease Validity (ClinGen)

GAPO syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡

Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.

Explore recent and relevant literature in Research Assistant →