Gene Symbol | HERC2 |
Entrez Gene ID | 8924 |
Full Name | HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
Synonyms | D15F37S1,MRT38,SHEP1,jdf2,p528 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]. |
Disorder MIM: | |
Disorder Html: | [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3); [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3); Mental retardation, autosomal recessive 38, 615516 (3) |