Analysis of CLK2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0861-LGZ)

Introduction

Official Full Name: CDC like kinase 2
This gene encodes a dual-specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. The activity of this protein regulates the serine- and arginine-rich (SR) proteins of the spliceosome complex, thereby affecting alternative splicing of transcripts. A chromosomal translocation occurs between this site and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias but encodes a protein involved in the regulation of telomere length. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants.