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This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure

Proteoglycans (PGs) are a family of proteins composed of different polypeptide chains containing glycosaminoglycan (GAG) modifications. They vary in their cellular locations and have diverse structure and functions. NG2 is a proteoglycan found in the nervous system, comprising a large integral membrane PG with a core protein of 300 kDa and at least one covalently attached chondroitin sulfate (CS) GAG chain. In the CNS this protein is expressed mainly on the surfaces of developing and adult

ATM is a 370 kDa nuclear phosphoprotein involved in the autosomal recessive disease Ataxia Telangiectasia (AT). ATM belongs to a novel family of proteins associated with cell cycle regulation, apoptosis, and response to DNA damage repair (DNA damage caused by such things as ionizing irradiation activates ATM kinase). The C terminal region has extensive homology to the catalytic domains of Phosphatidylinositol 3 kinases (PI3 kinases).$n

Podocin is an important member of a group of proteins shown to be associated with the slit diaphragm. Podocin belongs to the band 7 stomatin family of lipid raft-associated proteins. It is a hairpin like integral membrane protein with intracellular N and C termini. Podocin is located at the insertion site of the slit membrane, and is thought to act as a scaffold protein required to maintain or regulate the structural integrity of the slit diaphragm. It plays a role in the regulation of glomer

This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encod

This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encod