CD231 Antibody – Mouse Monoclonal

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: a multi-pass membrane protein. Member of the transmembrane 4 superfamily, also known as the tetraspanin family. These proteins apparently mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Defects in TSPAN7 are the cause of mental retardation X- linked type 58 (MRX58). Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: Xp11.4

Cellular Component: integral to plasma membrane

Biological Process: viral reproduction

Disease: Mental Retardation, X-linked 58