Protein tyrosine phosphatase variants in human hereditary disorders and disease susceptibilities.

摘要: Reversible tyrosine phosphorylation of proteins is a key regulatory mechanism to steer normal development and physiological functioning multicellular organisms. Phosphotyrosine dephosphorylation exerted by members the super-family protein phosphatase (PTP) enzymes many play such essential roles that wide variety hereditary disorders disease susceptibilities in man are caused PTP alleles. More than two decades research has resulted collection genetic variants with corresponding consequences at molecular, cellular level. Here we present comprehensive overview these gene have been linked states man. Although findings direct bearing for diagnostics on etiology, more work necessary translate this into therapies alleviate burden