TM4SF20 Chromosome 2

Transmembrane 4 L six family member 20
1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in TM4SF20.

What This Gene Does
The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Knockout of the homologous gene in mouse results in a neurobehavioral phenotype with suggested enhanced motor coordination. A deletion mutation in the human gene is associated with specific language impairment-5. [provided by RefSeq, Jul 2016]
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS752719190 Health Risk Conflicting classifications of pathogenicity
Sign Up to Analyze Your DNA Log In