MSK1 Polyclonal Antibody, 50ul[BT-AP05625] Pathway and Network Analysis Mutations in CEP290 have been

Mutations in CEP290 have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer

binds to cAMP inducible promoters and is involved in gene transcription

Alternative splicing and alternative promoter usage results in multiple transcript variants

The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma

Recognizes phosphatidyl serine via its immunoglobulin domain

MSK1 Polyclonal Antibody, 50ul[BT-AP05625] Pathway and Network Analysis Mutations in CEP290 have beenRPS6KA5 (Ribosomal Protein S6 Kinase A5) is a Protein Coding gene. Among its related pathways are cGMP PKG signaling pathway and Bladder cancer. GO annotations related to this gene include transferase activity, transferring phosphorus containing groups and protein tyrosine kinase activity. An important paralog of this gene is AKT1.