Gene Symbol | STUB1 |
Entrez Gene ID | 10273 |
Full Name | STIP1 homology and U-box containing protein 1 |
Synonyms | CHIP,HSPABP2,NY-CO-7,SCAR16,SDCCAG7,UBOX1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]. |
Disorder MIM: | |
Disorder Html: | Spinocerebellar ataxia, autosomal recessive 16, 615768 (3) |