This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys

Plexins are a family of large integral membrane proteins that complex with neuropilins to form semaphorin co-receptors. The extracellular region of plexins contain a semaphorin domain, multiple glycine rich motifs, and MET related sequences. The cytoplasmic region contains a Sex/Plexin domain and putative tyrosine phosphorylation sites that mediate signal transduction after activation. This region in Plexin A1 binds the RhoGTPases, Rnd1 and RhoD. Recruitment of Rnd1 has been implicated in th

Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in infl

TMEM106B is a 274 amino acid single-pass membrane protein that is encoded by a gene which maps to human chromosome 7. Chromosome 7 houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition charac

This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation.

High density lipoproteins (HDLs) play a critical role in cholesterol metabolism and their plasma concentrations are inversely correlated with risk for atherosclerosis. The SR-BI (Scavenger Receptor BI) protein binds HDLs and mediates selective uptake of HDL cholesteryl ester. SR-BI binds HDL with high affinity, is expressed primarily in liver and nonplacental steroidgenic tissues, and mediates selective cholesterol uptake by a distinct mechanism. In mice, it seems that SR-BI plays a key rol