TSPAN1

Chr 1

tetraspanin 1

Also known as: NET1, TM4C, TM4SF

NCBI Gene: 10103 ENSG00000117472 UniProt: O60635

The TSPAN1 protein is a structural component of specialized membrane microdomains that regulate cell signaling, adhesion, and migration, and specifically facilitates neuronal differentiation by enhancing nerve growth factor receptor signaling. Loss-of-function mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. This gene is not highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.37

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)