Gene Symbol | UBA1 |
Entrez Gene ID | 7317 |
Full Name | ubiquitin like modifier activating enzyme 1 |
Synonyms | A1S9,A1S9T,A1ST,AMCX1,CFAP124,GXP1,POC20,SMAX2,UBA1A,UBE1,UBE1X |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Spinal muscular atrophy, X-linked 2, infantile, 301830 (3) |