TSPAN7

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. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked cognitive disability and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008]

TSPAN7 Gene(Protein Coding)


Tetraspanin 7

May be involved in cell proliferation and cell motility.

Membrane

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.

Cytoplasmic: 1-16
Helical: 17-40
Extracellular: 41-56
Helical: 57-75
Cytoplasmic: 76-86
Helical: 87-112
Extracellular: 113-213
Helical: 214-234
Cytoplasmic: 235-249