In a person who is heterozygous for this deficiency there is a reduced amount of C2 mRNA Johnson et al. There are two main types of C2 deficiency. Type I and type II are characterized by different expressions and deletions of the gene. I is characterized by no detectable C2 protein being synthesized. There is a deletion in the 134 basepair single exon Johnson et al.
Exons are the part of the gene that are expressed, and the intron are the part that are cut out.
This deletion causes a frame shift in the chromosome. A 28 basepair deletion is detected in the gene 9 basepairs from the 3-prime end of the 134 basepair exon. Type II has a lower than normal synthesis of the C2 protein Johnson et al. There are two mutation detected in this type, they are on exon 5 and exon 11 Johnson et al. In conclusion, C2 deficiency is a disorder cause by a mutation in chromosome 6.