Genetics
The human protein is coded by the DRD4 on chromosome 11 located in 11p15.5.
There are slight variations (mutations/polymorphisms) in the human gene:
- A 48-base pair VNTR in exon 3
- C-521T in the promoter
- 13-base pair deletion of bases 235 to 247 in exon 1
- 12 base pair repeat in exon I.
- Val194Gly
- A polymorphic tandem duplication of 120 bp
Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, schizophrenia, and the personality trait of novelty seeking.
Read more about this topic: Dopamine Receptor D4