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Perilipins, members of the PAT protein family (named after lipid droplet proteins Perilipin, Adipophilin, and TIP47) are found exclusively at the surface of lipid droplets in adipocytes and steroidogenic cells. They have been suggested to function as regulators of lipolysis and triacylglycerol storage within adipose tissue. Four distinct isoforms ranging from perilipin A (57 kDa) to perilipin D (26 kDa) have been identified and they share an identical amino terminal sequences, and contain

This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms.

Activation of the complement system plays a key role in normal inflammatory response to injury but may cause substantial injury when activated inappropriately. The complement system is activated either through the classical (antibody induced) or the alternative (microbial surface, polysacharride induced) pathway, both leading to the formation of the C5b9 complex. Fluid phase binding of the multifunctional glycoprotein S protein (vitronectin) to C5b9 leads to the formation of a cytolytically ina

This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleava

This gene encodes a transmembrane protein containing six epidermal growth factor repeats. The protein is involved in the differentiation of several cell types, including adipocytes; it is also thought to be a tumor suppressor. It is one of several imprinted genes located in a region of on chr 14q32. Certain mutations in this imprinted region can cause phenotypes similar to maternal and paternal uniparental disomy of chromosome 14 (UPD14). This gene is expressed from the paternal allele. A pol

This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]