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The transforming growth factor Beta (TGF Beta) superfamily is composed of numerous growth and differentiation factors, including TGF Beta 1-3, Mullerian inhibiting substance (MIS), growth/differentiation factor (GDF) 1-9, bone morphogenic protein (BMP) 2-8, glial cell line-derived neurotrophic factor (GDNF), Inhibin Alpha, Beta-A, Beta-B and Beta-C, Lefty and Nodal. Members of the TGF Beta superfamily are involved in embryonic development and adult tissue homeostasis. Ectodermal cells throu

This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elev

CYB5R3 is a 301 amino acid protein encoded by the human gene CYB5R3. CYB5R3 belongs to the flavoprotein pyridine nucleotide cytochrome reductase family and has two naturally occuring isoforms. Isoform 1 is anchored to the cytoplasmic side of the endoplasmic reticulum membrane and mitochondrion outer membrane, while isoform 2 is the soluble form found in erythrocytes. CYB5R3 is involved in the desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism and, in erythr

This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which

Cadherins constitute a superfamily of calcium-dependent intercellular adhesion molecules and are thought to play a role in cell recognition and segregation, morphogenetic regulation, and tumor suppression. R Cadherin is expressed mainly in the brain but is also found in other tissues.

Required for TCR (T-cell antigen receptor)- and pre-TCR-mediated signaling, both in mature T-cells and during their development. Involved in FCGR3 (low affinity immunoglobulin gamma Fc region receptor III)-mediated signaling in natural killer cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Couples activation of these receptors and their associated kinases with distal intracellular events such as mobilization of intracellular calcium stores,