Megsin Polyclonal Antibody, 100ul ssDNA Synthesis Mutations in this gene may

Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome

All members of the Src gene family of tyrosine kinases are characterized by a carboxy terminal domain tyrosine which is highly phosphorylated in the inactive form of the enzyme and phosphorylated to a much lesser extent when the enzyme is active

also known as high affinity nerve growth factor receptor

the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53

Mutations in TSC1 have been associated with tuberous sclerosis

Megsin Polyclonal Antibody, 100ul ssDNA Synthesis Mutations in this gene maySERPINB7 (serpin family B member 7) encodes a member of a family of proteins which function as protease inhibitors. Expression of SERPINB7 is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants.