ANKK1
Description
The ANKK1 (ankyrin repeat and kinase domain containing 1) is a protein-coding gene located on chromosome 11.
The ANKK1 gene encodes an enzyme called Ankyrin repeat and kinase domain containing 1 (ANKK1), also known as protein kinase PKK2 or sugen kinase 288 (SgK288). It belongs to the Ser/Thr protein kinase family and the protein kinase superfamily, playing a role in signal transduction pathways.
ANKK1 has a single nucleotide polymorphism (SNP) that causes an amino acid substitution in the 11th ankyrin repeat. This SNP, called Taq1A, was previously thought to be in the promoter region of the DRD2 gene, influencing its expression. However, it's now known to be within the coding region of the ANKK1 gene, affecting dopamine synthesis in the brain. The A1 allele of this SNP is linked to increased activity of striatal L-amino acid decarboxylase.
The A1+ allele has been associated with several conditions, including:
- Hepatitis C infection
- Antisocial personality disorder
- Borderline personality traits
- Schizoid/avoidant behavior
While not empirically verified, the A1+ allele may also be associated with narcissistic and histrionic personality disorders.
The A1+ genotype frequency in European populations is estimated to be between 20.8% and 43.4%.
ANKK1 is closely linked to the dopamine receptor D2 (DRD2) gene on chromosome band 11q23.1.
ANKK1 is also known as PKK2, sgK288.
