TSPAN7
Function
May be involved in cell proliferation and cell motility.
Involvement in disease
Intellectual developmental disorder, X-linked 58
XLID58
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked intellectual disability, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the tetraspanin (TM4SF) family.
Tissue Specificity
Not solely expressed in T-cells. Expressed in acute myelocytic leukemia cells of some patients.
Cellular localization
- Membrane
- Multi-pass membrane protein
Alternative names
CD231, A15, DXS1692E, MXS1, TM4SF2, TSPAN7, Tetraspanin-7, Tspan-7, Cell surface glycoprotein A15, Membrane component chromosome X surface marker 1, T-cell acute lymphoblastic leukemia-associated antigen 1, Transmembrane 4 superfamily member 2, TALLA-1