p53(Phospho Ser376) Polyclonal Antibody, 50ul Buffers & Solutions Mutations in ACTA1 cause nemaline

Mutations in ACTA1 cause nemaline myopathy type 3

The product of this gene is a member of the BAR domain protein family

The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues

and transport between the recycling endosome and the trans-Golgi network

an adapter module in different E3 ubiquitin ligase complexes (By similarity)

p53(Phospho Ser376) Polyclonal Antibody, 50ul Buffers & Solutions Mutations in ACTA1 cause nemalineThis gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li Fraumeni syndrome.