Q6NS38

ALKBH2 (alkB, alkylation repair homolog 2), also known as ABH2, is a 261 amino acid protein that localizes to the nucleus and belongs to the alkB family.  ALKBH2 is functionally activated by ascorbate and requires oxygen and α-ketoglutarate for enzymatic activity. The gene encoding ALKBH2 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and Trisomy 12p, which causes facial developmental defects and seizure disorders.