| Type: | Family | Name: | Glomulin/ALF4 |
| Description: | In the human adult, FKBP-12, also known as FAP68 or FK506-binding protein, (protein product of the gene glomulin) is expressed at high levels in skeletal muscle, heart, brain and kidney, and at low levels in smaller arteries and veins. The high expression of glomulin in murine vasculature suggests an important role in blood vessel development and/or maintenance, which is supported by the vascular phenotype seen in GVM patients with mutations in this gene []. It is a cytoplasmic protein, specifically bound by the non-phosphorylated form of the hepatocyte growth factor, HGF, receptor and is released upon HGF stimulation and receptor phosphorylation, suggesting a potential role for FKBP12 in linking HGF signaling to the regulation of protein synthesis []. FKBP12 is found to regulate Ca2+ release from the sarcoplasmic reticulum (SR) by its action on the IP3 receptors (IP3Rs), which crucially regulate diverse cell signalling processes from reproduction to apoptosis, possibly via the kinase rapamycin (mTOR), that potentiates Ca2+ release from the IP3R in smooth muscle []. This entry also include the aberrant root formation protein 4 (At5g11030) from Arabidopsis. It is required for the initiation of lateral roots independent from auxin signaling []. | Short Name: | Glomulin/ALF4 |
