TTBK2 Summary

This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]

TTBK2 Details

Gene Symbol : TTBK2

Gene Name : Tau tubulin kinase 2

Chromosome : CHR 15: 429,209,94-427,389,73

Locus : 15q15.2

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UBR1 Summary

The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]

UBR1 Details

Gene Symbol : UBR1

Gene Name : Ubiquitin protein ligase E3 component n-recognin 1

Chromosome : CHR 15: 431,060,87-429,428,96

Locus : 15q15.2

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