AMOT Chromosome X
Angiomotin
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What This Gene Does
This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000126016
Associated Conditions (1)
Cerebral visual impairment and intellectual disability
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140857846 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148609725 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS869312862 | Health Risk | Likely pathogenic | Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |