HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C-terminal HECT domains and one or more RCC1-like (RLD) domains.[1][2]
^Sánchez-Tena S, Cubillos-Rojas M, Schneider T, Rosa JL (May 2016). "Functional and pathological relevance of HERC family proteins: a decade later". Cellular and Molecular Life Sciences. 73 (10): 1955–68. doi:10.1007/s00018-016-2139-8. PMC 11108380. PMID 26801221. S2CID 7457614.
^Hochrainer K, Mayer H, Baranyi U, Binder B, Lipp J, Kroismayr R (February 2005). "The human HERC family of ubiquitin ligases: novel members, genomic organization, expression profiling, and evolutionary aspects". Genomics. 85 (2): 153–64. doi:10.1016/j.ygeno.2004.10.006. PMID 15676274.
HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It is encoded by a gene of...
with eye color inheritance. Some of the eye-color genes include OCA2 and HERC2. The earlier belief that blue eye color is a simple recessive trait has...
an inherited trait influenced by more than one gene, including OCA2 and HERC2. The interaction of multiple genes—and the variation in these genes ("alleles")...
deletion often occurs in individuals with either syndrome. A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is...
skinned (having predominately derived alleles of SLC24A5, SLC45A2 and also HERC2/OCA2). Neolithic farmers entering Europe at around the same time were intermediate...
however, the main two genes associated with eye color variation are OCA2 and HERC2, and both are localized in chromosome 15. Before the discovery of DNA, scientists...
of U5, U4 and U2. These people carried a high frequency of the derived HERC2 allele which codes for light eye color and possess an increased frequency...
AD-associated GABA receptor gene cluster, GABRB3/GABRG3, and eye color genes, OCA2/HERC2, as well as between AD-associated GRM5 and pigmentation-associated TYR,...
LINC00340 (associated with spherical equivalent refractive error) and HERC2 (associated with eye color). Astigmatism may also occur following a cataract...
blue eyed, and retained the dark skin pigmentation of pre-LGM EEMH. The HERC2 and OCA2 variations for blue eyes are derived from the WHG lineage were...
phenotypic effects. Derived alleles at rs16891982 (SLC45A2) and rs12913832 (HERC2/OCA2), which contribute to reduced skin and eye pigmentation in Europeans...
general, people living in higher latitudes tend to have lighter skin. The HERC2 variation for blue eyes first appears around 14,000 years ago in Italy and...
SLC45A2 or SLC24A5 alleles associated with lighter skin color, the derived HERC2 allele associated with blue eyes, the derived LT allele associated with...
however, the individual is one of the earliest found to carry the derived HERC2 allele for blue eyes. The Satsurblia individual also likely had light skin...
Lee SH (Dec 2011). "Frameshift mutations of ubiquitination-related genes HERC2, HERC3, TRIP12, UBE2Q1 and UBE4B in gastric and colorectal carcinomas with...
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