AMOTL1 Chromosome 11

Angiomotin like 1

2 variants 2 Health Risk

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What This Gene Does

The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Associated Conditions (2)

6 conditions

Craniofaciocardiohepatic syndrome

Key Variants

RS1951433087

Conflicting classifications of pathogenicity

6 conditions, Craniofaciocardiohepatic syndrome, 6 conditions

Health Risk

RS2496020401

Pathogenic

Craniofaciocardiohepatic syndrome, Craniofaciocardiohepatic syndrome

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS1951433087	Health Risk	Conflicting classifications of pathogenicity	6 conditions, Craniofaciocardiohepatic syndrome, 6 conditions
RS2496020401	Health Risk	Pathogenic	Craniofaciocardiohepatic syndrome, Craniofaciocardiohepatic syndrome