Species Human Entrez 107987422 | Human Mouse Ensembl n/a | |
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Aliases LOC107987422, D15F37S1, MRT38, SHEP1, jdf2, p528, HERC2, HECT and RLD domain containing E3 ubiquitin protein ligase 2 External IDs MGI: 103234 GeneCards: LOC107987422 | ||
Probable E3 ubiquitin-protein ligase HERC2 is an enzyme that in humans is encoded by the HERC2 gene.
A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. It has been hypothesized that all blue eyed humans share a single common ancestor with whom the mutation originated.
The HERC2 gene's derived rs916977 allele is most common in Europe; particularly in the north and east, where it nears fixation. The variant is also found at high frequencies in North Africa, the Near East, Oceania and the Americas.
References
HERC2 Wikipedia(Text) CC BY-SA