Analysis of COL4A4 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1526-LGZ)

Introduction

Official Full Name: collagen type IV alpha 4 chain
Also known as: BFH; ATS2; BFH1; CA44
The gene encodes one of the six subunits of type IV collagen, the main structural component of the basement membrane. However, this particular collagen IV subunit is only present in one subunit of the basement membrane. Like other members of the collagen IV gene family, this gene is in a head-to-head conformation with another collagen IV gene, so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and familial benign hematuria (thin basement membrane disease). Two transcripts of this gene have been identified, differing only in the transcription start site, and like the collagen gene, multiple polyadenylation sites were found in the 3' UTR.