TSPAN7

TSPAN7 (Tetraspanin 7) is a protein that in humans is encoded by the TSPAN7 gene. It is a member of the tetraspanin family, a group of proteins characterized by the presence of four hydrophobic domains. TSPAN7 is known to play a crucial role in the development and function of the nervous system.

Function

TSPAN7 is involved in several key processes within the body. It plays a role in the regulation of cell development, cell proliferation, cell differentiation, and cell migration. It is also involved in the process of myelination, which is the formation of a myelin sheath around a nerve to allow nerve impulses to move more quickly.

Clinical significance

Mutations in the TSPAN7 gene have been associated with X-linked intellectual disability (XLID). Specifically, the mutations can cause a syndrome known as MRXS15, which is characterized by moderate to severe intellectual disability, epilepsy, and sometimes autism.

See also

• Tetraspanin
• X-linked intellectual disability

References

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External links

• GeneReviews/NCBI/NIH/UW entry on TSPAN7
• Uniprot entry on TSPAN7

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