Gene Symbol | HACE1 |
Entrez Gene ID | 57531 |
Full Name | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 |
Synonyms | SPPRS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3) |