Gene Symbol | UBA5 |
Entrez Gene ID | 79876 |
Full Name | ubiquitin like modifier activating enzyme 5 |
Synonyms | EIEE44,SCAR24,THIFP1,UBE1DC1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 44, 617132 (3); ?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3) |