RNA splicing
Although alternatively spliced transcripts have been detected for this gene, they are the result of mutations; these mutations alter RNA splicing, often leading to the exclusion of an exon or use of cryptic splice sites. The resulting defective protein is the cause of a severe, rare disease, the vascular type of Ehlers-Danlos Syndrome (vEDS). These studies have also provided important information about RNA splicing mechanisms in multi-exon genes.