background:
Tetraspanins are a group of hydrophobic membrane proteins that interact with a wide variety of proteins including intracellular signaling molecules, integrins and membrane receptors. TSPAN7 (tetraspanin 7), also known as MXS1 (membrane component chromosome X surface marker 1) or TM4SF2 (transmembrane 4 superfamily member 2), is a 249 amino acid multi-pass membrane protein belonging to the tetraspanin (TM4SF) family of transmembrane proteins. TSPAN7 is believed to play a role in cell motility and cell proliferation. The gene that encodes TSPAN7 maps to human chromosome X and defects in this gene are a cause of mental retardation X-linked type 58 (MRX58), which is characterized by dramatically below average general intellectual functioning.
Function:
May be involved in cell proliferation and cell motility.
Subunit:
Interacts with herpes simplex virus 1 (HHSLV1) UL35.
Subcellular Location:
Membrane; Multi-pass membrane protein.
Tissue Specificity:
Not solely expressed in T-cells. Expressed in acute myelocytic leukemia cells of some patients.
DISEASE:
Defects in TSPAN7 are the cause of mental retardation X-linked type 58 (MRX58) [MIM:300210]. 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.
Similarity:
Belongs to the tetraspanin (TM4SF) family.
Database links:
UniProtKB/Swiss-Prot: P41732.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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