HERC2
Description
The HERC2 gene, located on chromosome 15, plays a crucial role in regulating pigmentation, particularly in the eyes and skin. It encodes a protein known as HERC2, which acts as a ubiquitin ligase, a protein responsible for tagging other proteins for degradation. This process is vital for the proper functioning of the OCA2 protein, which is involved in melanin production. Variations in the HERC2 gene can lead to alterations in melanin production, resulting in different eye and skin pigmentation phenotypes.
Associated Diseases
Did you know?
The HERC2 gene has been linked to the blue eye color trait, which is often associated with European populations.
