Desmin is a muscle-specific, type III intermediate filament that integrates the sarcolemma, Z disk, and nuclear membrane in sarcomeres and regulates sarcomere architecture. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z line structures. Defects in Desmin are the cause of desmin related cardio skeletal myopathy (CSM) also known as desmin related myopathy (DRM). CSM is characterized by skeletal mus

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+-ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is

Carbonic anhydrase II (CAII) is a single polypeptide chain of molecular weight 29kDa. It is present in the cytosol of most tissues, but highest concentrations are found, like Carbonic Anhydrase I, in erythrocytes. The concentration in erythrocytes is about 20µM. It catalyses the hydration of CO2 and the hydrolysis of esters. Zn2+ ion cofactor is required for enzyme activity. Certain point mutations occur without apparent clinical effect, however, complete absence leads to mild mental reta

Growth factor receptor bound protein 2 (GRB2), also known as Ash protein, is a 24 kDa protein that contains a central Src homology (SH2) domain flanked by two SH3 domains. GRB2 is believed to be a regulatory subunit of signaling molecules whose activity is modulated by receptor binding. GRB2 associates with activated (tyrosine phosphorylated) EGFR and PDGFR via its SH2 domain as well as IRS1, SHC, and LNK through SH2 and SH3 domains. The SH3 domain binds to SOS, a guanine nucleotide exchange

This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT proteins all have an N-terminal pleckstrin homology domain, a serine/threonine-specific kinase domain and a C-terminal regulatory domain. These proteins are phosphorylated by phosphoinositide 3-kinase (PI3K). AKT/PI3K forms a key component of many signalling pathways that involve the binding of membr

This protein was identified in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this protein has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70 kDa component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. T