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STUB1 STIP1 homology and U-box containing protein 1

Gene ID: 10273, updated on 28-Oct-2024
Gene type: protein coding
Also known as: CHIP; SCA48; UBOX1; SCAR16; HSPABP2; NY-CO-7; SDCCAG7

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Autosomal recessive spinocerebellar ataxia 16
MedGen: C5190574OMIM: 615768GeneReviews: Not available
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Spinocerebellar ataxia 48
MedGen: C4748158OMIM: 618093GeneReviews: Not available
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Genomic context

Location:
16p13.3
Sequence:
Chromosome: 16; NC_000016.10 (680410..682801)
Total number of exons:
7

Links

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